V12G (p.Val12Gly) variant of POLH (DNA polymerase eta)
V12G (p.Val12Gly) 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.
V12G (p.Val12Gly) variant details
- p.Val12Gly
- gnomAD rs1764376186
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.73
- MetaLR 0.65
- MetaSVM 0.46
- CADD 27.20
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available