A78S (p.Ala78Ser) variant of POLH (DNA polymerase eta)
A78S (p.Ala78Ser) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A78S (p.Ala78Ser) variant details
- p.Ala78Ser
- gnomAD 6-43583101-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.41
- ESM-1b 0.57
- AlphaMissense 0.16
- CADD 25.30
- PolyPhen-2 0.77
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available