A40A (p.Ala40Ala) variant of RASA1 (Ras GTPase-activating protein 1)
A40A (p.Ala40Ala) in RASA1 (Ras GTPase-activating protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A40A (p.Ala40Ala) variant details
- p.Ala40Ala
- rs1315195533
- gnomAD 5-87268571-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.217
- CADD 9.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.814
- Literature evidence available