V12M (p.Val12Met) variant of POLH (DNA polymerase eta)
V12M (p.Val12Met) in POLH (DNA polymerase eta) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
V12M (p.Val12Met) variant details
- p.Val12Met
- cosmic curated COSV10467
- Ensembl rs552779831
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.38
- MetaLR 0.48
- MetaSVM 0.05
- CADD 24.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available