R7Q (p.Arg7Gln) variant of POLH (DNA polymerase eta)
R7Q (p.Arg7Gln) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R7Q (p.Arg7Gln) variant details
- p.Arg7Gln
- TOPMed rs1446542886
- gnomAD rs1446542886
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.37
- MetaLR 0.51
- MetaSVM 0.13
- CADD 27.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available