V13G (p.Val13Gly) variant of POLD1 (P28340)
V13G (p.Val13Gly) in POLD1 (P28340) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V13G (p.Val13Gly) variant details
- p.Val13Gly
- cosmic curated COSV70955
- Ensembl rs1601188623
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.03
- CADD 16.20
- PolyPhen-2 0.14
- SIFT 0.52
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available