M63R (p.Met63Arg) variant of POLH (DNA polymerase eta)
M63R (p.Met63Arg) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
M63R (p.Met63Arg) variant details
- p.Met63Arg
- ExAC rs778989527
- gnomAD rs778989527
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- ESM-1b 1.00
- AlphaMissense 0.70
- Population evidence available
- Structural context available