A23E (p.Ala23Glu) variant of RASA1 (Ras GTPase-activating protein 1)
A23E (p.Ala23Glu) 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 0.21 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A23E (p.Ala23Glu) variant details
- p.Ala23Glu
- ExAC rs760944130
- gnomAD rs760944130
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.14
- CADD 16.70
- PolyPhen-2 0.01
- SIFT 0.23
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.269