R30K (p.Arg30Lys) variant of POLH (DNA polymerase eta)
R30K (p.Arg30Lys) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R30K (p.Arg30Lys) variant details
- p.Arg30Lys
- gnomAD 6-43582408-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.08
- MetaSVM -1.06
- CADD 14.80
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available