G58R (p.Gly58Arg) variant of POLH (DNA polymerase eta)
G58R (p.Gly58Arg) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
G58R (p.Gly58Arg) variant details
- p.Gly58Arg
- gnomAD rs1315735559
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.65
- MetaLR 0.94
- MetaSVM 1.05
- CADD 28.70
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available