R183H (p.Arg183His) variant of GNA11 (P29992)
R183H (p.Arg183His) in GNA11 (P29992) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Familial multiple nevi flammei. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
R183H (p.Arg183His) variant details
- p.Arg183His
- Ensembl rs1913872981
- Likely pathogenic
- Familial multiple nevi flammei
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.91
- AlphaMissense 0.64
- MetaLR 0.62
- MetaSVM 0.47
- CADD 32.00
- PolyPhen-2 0.95
- ClinVar: Likely pathogenic (Familial multiple nevi flammei)
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available