K37R (p.Lys37Arg) variant of RASA1 (Ras GTPase-activating protein 1)
K37R (p.Lys37Arg) 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 0.15 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K37R (p.Lys37Arg) variant details
- p.Lys37Arg
- rs780044015
- ClinGen CA3335327
- ClinVar RCV001235297
- ExAC rs780044015
- Uncertain significance
- Capillary malformation-arteriovenous malformation syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.07
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.98
- ClinVar: Uncertain significance (Capillary malformation-arteriovenous malformation syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score 0.024
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)