S27P (p.Ser27Pro) variant of RASA1 (Ras GTPase-activating protein 1)
S27P (p.Ser27Pro) 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 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes experimental measurements, published literature, and structural context.
S27P (p.Ser27Pro) variant details
- p.Ser27Pro
- rs1753667262
- ClinGen CA360416736
- ClinVar RCV001158032
- Ensembl rs1753667262
- Uncertain significance
- Capillary malformation-arteriovenous malformation 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- AlphaMissense 0.06
- MetaLR 0.14
- MetaSVM -0.97
- PolyPhen-2 0.00
- SIFT 0.16
- MutPred 0.14
- ClinVar: Uncertain significance (Capillary malformation-arteriovenous malformation 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.834
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)