G26D (p.Gly26Asp) variant of RASA1 (Ras GTPase-activating protein 1)
G26D (p.Gly26Asp) in RASA1 (Ras GTPase-activating protein 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G26D (p.Gly26Asp) variant details
- p.Gly26Asp
- ExAC rs765793195
- TOPMed rs765793195
- gnomAD rs765793195
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.12
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.92
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.0284