G102V (p.Gly102Val) variant of CDKN2A (Tumor suppressor ARF)
G102V (p.Gly102Val) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial melanoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
G102V (p.Gly102Val) variant details
- p.Gly102Val
- rs121913384
- ClinGen CA16602751
- NCI-TCGA Cosmic COSV5868
- cosmic curated COSV58683
- Pathogenic
- Familial melanoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- AlphaMissense 0.38
- MetaLR 0.60
- MetaSVM 0.38
- PolyPhen-2 1.00
- SIFT 0.12
- MutPred 0.32
- ClinVar: Pathogenic (Familial melanoma; Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- 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)