Q33K (p.Gln33Lys) variant of POLD1 (P28340)
Q33K (p.Gln33Lys) in POLD1 (P28340) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
Q33K (p.Gln33Lys) variant details
- p.Gln33Lys
- gnomAD 19-50398948-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.05
- CADD 18.10
- PolyPhen-2 0.03
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available