A3E (p.Ala3Glu) variant of RASA1 (Ras GTPase-activating protein 1)
A3E (p.Ala3Glu) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A3E (p.Ala3Glu) variant details
- p.Ala3Glu
- gnomAD 5-87268459-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.39
- CADD 26.10
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.0454
- Literature evidence available