Q33R (p.Gln33Arg) variant of POLD1 (P28340)
Q33R (p.Gln33Arg) in POLD1 (P28340) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q33R (p.Gln33Arg) variant details
- p.Gln33Arg
- gnomAD 19-50398949-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.05
- CADD 19.20
- PolyPhen-2 0.07
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available