G44D (p.Gly44Asp) variant of POLH (DNA polymerase eta)
G44D (p.Gly44Asp) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G44D (p.Gly44Asp) variant details
- p.Gly44Asp
- gnomAD 6-43582450-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.56
- MetaLR 0.52
- MetaSVM 0.01
- CADD 29.50
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available