G22S (p.Gly22Ser) variant of RASA1 (Ras GTPase-activating protein 1)
G22S (p.Gly22Ser) 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 0.33 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G22S (p.Gly22Ser) variant details
- p.Gly22Ser
- ESP rs371413736
- ExAC rs371413736
- TOPMed rs371413736
- gnomAD rs371413736
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.23
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.26
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.102