R35W (p.Arg35Trp) variant of RASA1 (Ras GTPase-activating protein 1)
R35W (p.Arg35Trp) in RASA1 (Ras GTPase-activating protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R35W (p.Arg35Trp) variant details
- p.Arg35Trp
- rs1161338399
- ClinGen CA360416786
- ClinVar RCV002389615
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.50
- CADD 26.10
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.268