R10H (p.Arg10His) variant of POLE (Q07864)
R10H (p.Arg10His) in POLE (Q07864) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
R10H (p.Arg10His) variant details
- p.Arg10His
- Ensembl rs2136052183
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.08
- CADD 9.79
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available