G17E (p.Gly17Glu) variant of RASA1 (Ras GTPase-activating protein 1)
G17E (p.Gly17Glu) in RASA1 (Ras GTPase-activating protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G17E (p.Gly17Glu) variant details
- p.Gly17Glu
- gnomAD 5-87268497-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.513
- CADD 25.10
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.084
- Literature evidence available