L76P (p.Leu76Pro) variant of POLH (DNA polymerase eta)
L76P (p.Leu76Pro) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
L76P (p.Leu76Pro) variant details
- p.Leu76Pro
- TOPMed rs1183777159
- gnomAD rs1183777159
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.55
- ESM-1b 0.67
- AlphaMissense 0.74
- MetaLR 0.51
- MetaSVM 0.09
- CADD 24.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available