P31S (p.Pro31Ser) variant of POLD1 (P28340)
P31S (p.Pro31Ser) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, 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 0.23 / 1. The record also includes population frequency data and structural context.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- rs2513932760
- ClinVar RCV004590610
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.11
- CADD 22.50
- PolyPhen-2 0.64
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available