A18D (p.Ala18Asp) variant of RASA1 (Ras GTPase-activating protein 1)
A18D (p.Ala18Asp) in RASA1 (Ras GTPase-activating protein 1) is a missense 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.
A18D (p.Ala18Asp) variant details
- p.Ala18Asp
- gnomAD 5-87268504-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.23
- CADD 23.20
- PolyPhen-2 0.14
- SIFT 0.03
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.513
- Literature evidence available