G32V (p.Gly32Val) variant of CDKN2A (Tumor suppressor ARF)
G32V (p.Gly32Val) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G32V (p.Gly32Val) variant details
- p.Gly32Val
- cosmic curated COSV64256
- ESP rs370655358
- ExAC rs370655358
- gnomAD rs370655358
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- AlphaMissense 0.32
- MetaLR 0.36
- MetaSVM -0.70
- CADD 21.20
- SIFT 0.02
- EVE 0.56
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available