P40L (p.Pro40Leu) variant of CDKN2A (Tumor suppressor ARF)
P40L (p.Pro40Leu) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial melanoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature.
P40L (p.Pro40Leu) variant details
- p.Pro40Leu
- rs1587358382
- ClinGen CA373086906
- ClinVar RCV000802445
- ClinVar RCV005532763
- Conflicting interpretations
- Familial melanoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- AlphaMissense 0.10
- MetaLR 0.09
- MetaSVM -0.97
- SIFT 0.92
- EVE 0.04
- ClinVar: Conflicting classifications of pathogenicity (Familial melanoma; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Skin Cancer (PDQ®): Health Professional Version. (PMID 26389333)