E10D (p.Glu10Asp) variant of RASA1 (Ras GTPase-activating protein 1)
E10D (p.Glu10Asp) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E10D (p.Glu10Asp) variant details
- p.Glu10Asp
- Ensembl rs1024971030
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.18
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.62
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.434