S8Y (p.Ser8Tyr) variant of RASA1 (Ras GTPase-activating protein 1)
S8Y (p.Ser8Tyr) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S8Y (p.Ser8Tyr) variant details
- p.Ser8Tyr
- rs898182262
- gnomAD 5-87269269-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- CADD 11.30
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.0836
- Literature evidence available