A40E (p.Ala40Glu) variant of RASA1 (Ras GTPase-activating protein 1)
A40E (p.Ala40Glu) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A40E (p.Ala40Glu) variant details
- p.Ala40Glu
- gnomAD 5-87268570-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.10
- CADD 9.46
- PolyPhen-2 0.04
- SIFT 1.00
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.814
- Literature evidence available