P402L (p.Pro402Leu) variant of MUTYH (Adenine DNA glycosylase)
P402L (p.Pro402Leu) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial adenomatous polyposis 2; Gastric cancer; B lymphoblastic leukemia lymph. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
P402L (p.Pro402Leu) variant details
- p.Pro402Leu
- rs529008617
- ClinGen CA012325
- ClinVar RCV000131914
- ClinVar RCV000144633
- Conflicting interpretations
- Familial adenomatous polyposis 2; Gastric cancer; B lymphoblastic leukemia lymph
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.50
- AlphaMissense 0.12
- MetaLR 0.85
- MetaSVM 0.64
- CADD 19.80
- PolyPhen-2 0.01
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- EBI: Pathogenic (in FAP2)
- UniProt: Pathogenic (in FAP2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.001)
- Structural context available
- Cited in: MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. (PMID 16557584)
- Cited in: Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal… (PMID 20848659)