A32V (p.Ala32Val) variant of POLG (DNA polymerase subunit gamma-1)
A32V (p.Ala32Val) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- NCI-TCGA Cosmic COSV5152
- cosmic curated COSV51520
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.26
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available