M14V (p.Met14Val) variant of POLH (DNA polymerase eta)
M14V (p.Met14Val) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
M14V (p.Met14Val) variant details
- p.Met14Val
- cosmic curated COSV64779
- 1000Genomes rs61748656
- ExAC rs61748656
- TOPMed rs61748656
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.37
- MetaLR 0.49
- MetaSVM 0.05
- CADD 25.20
- Most common in the East Asian population (allele frequency 0.0014)
- Structural context available