R97H (p.Arg97His) variant of ACTA2 (Actin, aortic smooth muscle)
R97H (p.Arg97His) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Moyamoya disease 5; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
R97H (p.Arg97His) variant details
- p.Arg97His
- rs1055787195
- ClinGen CA211320727
- ClinVar RCV003455890
- ClinVar RCV004765842
- Uncertain significance
- Moyamoya disease 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.91
- CADD 24.80
- PolyPhen-2 0.12
- SIFT 0.04
- ClinVar: Uncertain significance (Moyamoya disease 5; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available