R7P (p.Arg7Pro) variant of POLH (DNA polymerase eta)
R7P (p.Arg7Pro) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R7P (p.Arg7Pro) variant details
- p.Arg7Pro
- TOPMed rs1446542886
- gnomAD rs1446542886
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.53
- MetaSVM 0.18
- CADD 27.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available