T60A (p.Thr60Ala) variant of POLH (DNA polymerase eta)
T60A (p.Thr60Ala) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
T60A (p.Thr60Ala) variant details
- p.Thr60Ala
- gnomAD 6-43583047-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.10
- MetaLR 0.16
- MetaSVM -0.97
- CADD 17.20
- Population evidence available
- Structural context available
- Literature evidence available