F57L (p.Phe57Leu) variant of POLH (DNA polymerase eta)
F57L (p.Phe57Leu) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
F57L (p.Phe57Leu) variant details
- p.Phe57Leu
- gnomAD 6-43583038-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.32
- ESM-1b 0.35
- AlphaMissense 0.77
- MetaLR 0.16
- MetaSVM -0.77
- CADD 22.90
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available