S6Y (p.Ser6Tyr) variant of MUTYH (Adenine DNA glycosylase)
S6Y (p.Ser6Tyr) 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; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S6Y (p.Ser6Tyr) variant details
- p.Ser6Tyr
- rs587782837
- ClinGen CA011733
- ClinVar RCV000132425
- ClinVar RCV000212695
- Conflicting interpretations
- Familial adenomatous polyposis 2; Gastric cancer; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- AlphaMissense 0.12
- MetaLR 0.07
- MetaSVM -1.07
- CADD 19.20
- PolyPhen-2 0.68
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Familial adenomatous polyposis 2; Gastric cancer; Hereditary can)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Cited in: MUTYH Polyposis. (PMID 23035301)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)