D34V (p.Asp34Val) variant of POLG (DNA polymerase subunit gamma-1)
D34V (p.Asp34Val) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
D34V (p.Asp34Val) variant details
- p.Asp34Val
- rs779409525
- ClinGen CA7725207
- ClinVar RCV000518685
- ExAC rs779409525
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.13
- CADD 7.57
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available