S27F (p.Ser27Phe) variant of RASA1 (Ras GTPase-activating protein 1)
S27F (p.Ser27Phe) 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 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S27F (p.Ser27Phe) variant details
- p.Ser27Phe
- rs2531002176
- ClinGen CA360416740
- ClinVar RCV003760162
- Uncertain significance
- Capillary malformation-arteriovenous malformation syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.10
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.29
- 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 -0.834
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)