M1? variant of RASA1 (Ras GTPase-activating protein 1)
M1? in RASA1 (Ras GTPase-activating protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes experimental measurements, published literature, and structural context.
M1? variant details
- rs2531001859
- ClinGen CA360416577
- NCI-TCGA Cosmic COSV9916
- ClinVar RCV003760684
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- RASA1 SH3 domain domainome 1.0: score 0.0183
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)