G16V (p.Gly16Val) variant of CDKN2A (Tumor suppressor ARF)
G16V (p.Gly16Val) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial melanoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
G16V (p.Gly16Val) variant details
- p.Gly16Val
- rs1444669684
- ClinGen CA373087045
- ClinVar RCV000686282
- TOPMed rs1444669684
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- AlphaMissense 0.45
- MetaLR 0.45
- MetaSVM -0.53
- CADD 22.90
- SIFT 0.10
- EVE 0.74
- ClinVar: Uncertain significance (Familial melanoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)