A29D (p.Ala29Asp) variant of RASA1 (Ras GTPase-activating protein 1)
A29D (p.Ala29Asp) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A29D (p.Ala29Asp) variant details
- p.Ala29Asp
- gnomAD 5-87268537-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.15
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.879
- Literature evidence available