P31T (p.Pro31Thr) variant of POLD1 (P28340)
P31T (p.Pro31Thr) in POLD1 (P28340) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P31T (p.Pro31Thr) variant details
- p.Pro31Thr
- gnomAD 19-50398942-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.12
- CADD 21.70
- PolyPhen-2 0.64
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available