S28G (p.Ser28Gly) variant of RASA1 (Ras GTPase-activating protein 1)
S28G (p.Ser28Gly) in RASA1 (Ras GTPase-activating protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S28G (p.Ser28Gly) variant details
- p.Ser28Gly
- rs1289822620
- ClinGen CA360416742
- ClinVar RCV003593540
- ClinVar RCV005725063
- Conflicting interpretations
- Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno
- Missense
- Variant Prioritization Score for Impact Estimate 0.0725
- REVEL 0.06
- CADD 4.26
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Conflicting classifications of pathogenicity (Capillary malformation-arteriovenous malformation syndrome; Card)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.0793
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)