P73R (p.Pro73Arg) variant of POLH (DNA polymerase eta)
P73R (p.Pro73Arg) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P73R (p.Pro73Arg) variant details
- p.Pro73Arg
- TOPMed rs1764461980
- gnomAD rs1764461980
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.85
- MetaSVM 0.80
- CADD 25.80
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available