S8C (p.Ser8Cys) variant of RASA1 (Ras GTPase-activating protein 1)
S8C (p.Ser8Cys) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S8C (p.Ser8Cys) variant details
- p.Ser8Cys
- rs898182262
- gnomAD 5-87269269-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 11.60
- Most common in the Latino/Admixed American population (allele frequency 0.00092)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.0836
- Literature evidence available