A23G (p.Ala23Gly) variant of RASA1 (Ras GTPase-activating protein 1)
A23G (p.Ala23Gly) 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 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A23G (p.Ala23Gly) variant details
- p.Ala23Gly
- rs760944130
- ClinGen CA3335314
- ClinVar RCV002016698
- ClinVar RCV002361397
- Conflicting interpretations
- Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.14
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Conflicting classifications of pathogenicity (Capillary malformation-arteriovenous malformation syndrome; Card)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 5.2e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.269
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)