A23P (p.Ala23Pro) variant of RASA1 (Ras GTPase-activating protein 1)
A23P (p.Ala23Pro) 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 Capillary malformation-arteriovenous malformation syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A23P (p.Ala23Pro) variant details
- p.Ala23Pro
- rs2531002115
- ClinGen CA360416715
- ClinVar RCV003759548
- Uncertain significance
- Capillary malformation-arteriovenous malformation syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.19
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Capillary malformation-arteriovenous malformation syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.269
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)