P27R (p.Pro27Arg) variant of POLH (DNA polymerase eta)
P27R (p.Pro27Arg) 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, published literature, and structural context.
P27R (p.Pro27Arg) variant details
- p.Pro27Arg
- gnomAD 6-43582399-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.18
- MetaLR 0.77
- MetaSVM 0.64
- CADD 25.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available