R24Q (p.Arg24Gln) variant of POLH (DNA polymerase eta)
R24Q (p.Arg24Gln) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R24Q (p.Arg24Gln) variant details
- p.Arg24Gln
- Ensembl rs1321149114
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.37
- MetaSVM -0.33
- CADD 26.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available