P15Q (p.Pro15Gln) variant of POLD1 (P28340)
P15Q (p.Pro15Gln) in POLD1 (P28340) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P15Q (p.Pro15Gln) variant details
- p.Pro15Gln
- gnomAD 19-50398895-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.04
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available