R6L (p.Arg6Leu) variant of POLD1 (P28340)
R6L (p.Arg6Leu) in POLD1 (P28340) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R6L (p.Arg6Leu) variant details
- p.Arg6Leu
- gnomAD 19-50398868-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.07
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available