P11L (p.Pro11Leu) variant of POLD1 (P28340)
P11L (p.Pro11Leu) 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 and structural context.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- TOPMed rs922648487
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.05
- CADD 16.40
- PolyPhen-2 0.02
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available