S8N (p.Ser8Asn) variant of RASA1 (Ras GTPase-activating protein 1)
S8N (p.Ser8Asn) 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 and structural context.
S8N (p.Ser8Asn) variant details
- p.Ser8Asn
- TOPMed rs1479481218
- gnomAD rs1479481218
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.0836