T15I (p.Thr15Ile) variant of RASA1 (Ras GTPase-activating protein 1)
T15I (p.Thr15Ile) 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; Capillary malformation-arte. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T15I (p.Thr15Ile) variant details
- p.Thr15Ile
- rs899638423
- ClinGen CA122462651
- ClinVar RCV001156358
- ClinVar RCV005093663
- Uncertain significance
- Capillary malformation-arteriovenous malformation 1; Capillary malformation-arte
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.18
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Capillary malformation-arteriovenous malformation 1; Capillary m)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.168
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)