K37N (p.Lys37Asn) variant of RASA1 (Ras GTPase-activating protein 1)
K37N (p.Lys37Asn) 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 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K37N (p.Lys37Asn) variant details
- p.Lys37Asn
- rs181218870
- ClinGen CA3335328
- ClinVar RCV002907997
- 1000Genomes rs181218870
- Uncertain significance
- Capillary malformation-arteriovenous malformation syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.28
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Capillary malformation-arteriovenous malformation syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score 0.024
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)