E22A (p.Glu22Ala) variant of POLH (DNA polymerase eta)
E22A (p.Glu22Ala) 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.
E22A (p.Glu22Ala) variant details
- p.Glu22Ala
- gnomAD 6-43582384-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.68
- MetaSVM 0.51
- CADD 27.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available