G22D (p.Gly22Asp) variant of RASA1 (Ras GTPase-activating protein 1)
G22D (p.Gly22Asp) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G22D (p.Gly22Asp) variant details
- p.Gly22Asp
- TOPMed rs1404507632
- gnomAD rs1404507632
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.17
- CADD 19.00
- PolyPhen-2 0.03
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.102