R55L (p.Arg55Leu) variant of POLH (DNA polymerase eta)
R55L (p.Arg55Leu) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R55L (p.Arg55Leu) variant details
- p.Arg55Leu
- gnomAD 6-43583033-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.85
- MetaSVM 0.89
- CADD 29.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available