V80I (p.Val80Ile) variant of POLH (DNA polymerase eta)
V80I (p.Val80Ile) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
V80I (p.Val80Ile) variant details
- p.Val80Ile
- gnomAD 6-43583107-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.37
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 23.90
- PolyPhen-2 0.34
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available