T15A (p.Thr15Ala) variant of RASA1 (Ras GTPase-activating protein 1)
T15A (p.Thr15Ala) 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 0.16 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T15A (p.Thr15Ala) variant details
- p.Thr15Ala
- rs1426539498
- ClinGen CA360416669
- ClinVar RCV003080650
- gnomAD rs1426539498
- Uncertain significance
- Capillary malformation-arteriovenous malformation syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.10
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.12
- 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 1.8e-06)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.168
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)