K69N (p.Lys69Asn) variant of POLH (DNA polymerase eta)
K69N (p.Lys69Asn) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
K69N (p.Lys69Asn) variant details
- p.Lys69Asn
- gnomAD 6-43583076-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.75
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available