R129H (p.Arg129His) variant of PRKAA1 (Q13131)
R129H (p.Arg129His) in PRKAA1 (Q13131) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R129H (p.Arg129His) variant details
- p.Arg129His
- rs375372236
- cosmic curated COSV57186
- ESP rs375372236
- ExAC rs375372236
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.46
- MetaLR 0.28
- MetaSVM -0.52
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00017)
- Structural context available