S8I (p.Ser8Ile) variant of RASA1 (Ras GTPase-activating protein 1)
S8I (p.Ser8Ile) 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 0.38 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S8I (p.Ser8Ile) variant details
- p.Ser8Ile
- rs1479481218
- ClinGen CA360416628
- ClinVar RCV003377670
- TOPMed rs1479481218
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.33
- CADD 22.90
- PolyPhen-2 0.09
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.0836