K69R (p.Lys69Arg) variant of POLH (DNA polymerase eta)
K69R (p.Lys69Arg) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K69R (p.Lys69Arg) variant details
- p.Lys69Arg
- gnomAD 6-43583075-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.20
- ESM-1b 0.28
- AlphaMissense 0.08
- CADD 22.60
- PolyPhen-2 0.17
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available