G11D (p.Gly11Asp) variant of RASA1 (Ras GTPase-activating protein 1)
G11D (p.Gly11Asp) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G11D (p.Gly11Asp) variant details
- p.Gly11Asp
- gnomAD 5-87268483-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.30
- CADD 23.70
- PolyPhen-2 0.25
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.278
- Literature evidence available