E9E (p.Glu9Glu) variant of RASA1 (Ras GTPase-activating protein 1)
E9E (p.Glu9Glu) in RASA1 (Ras GTPase-activating protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E9E (p.Glu9Glu) variant details
- p.Glu9Glu
- gnomAD 5-87268478-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.356
- CADD 12.80
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.796
- Literature evidence available