L75F (p.Leu75Phe) variant of POLH (DNA polymerase eta)
L75F (p.Leu75Phe) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
L75F (p.Leu75Phe) variant details
- p.Leu75Phe
- gnomAD rs1169717855
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.73
- MetaLR 0.74
- MetaSVM 0.57
- CADD 25.90
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available