L29M (p.Leu29Met) variant of POLH (DNA polymerase eta)
L29M (p.Leu29Met) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L29M (p.Leu29Met) variant details
- p.Leu29Met
- ExAC rs772656490
- gnomAD rs772656490
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.69
- ESM-1b 0.05
- AlphaMissense 0.29
- MetaLR 0.66
- MetaSVM 0.39
- CADD 24.20
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available