T60S (p.Thr60Ser) variant of POLH (DNA polymerase eta)
T60S (p.Thr60Ser) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
T60S (p.Thr60Ser) variant details
- p.Thr60Ser
- gnomAD 6-43583048-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.32
- ESM-1b 0.05
- AlphaMissense 0.09
- MetaLR 0.15
- MetaSVM -0.92
- CADD 20.70
- Population evidence available
- Structural context available
- Literature evidence available