G7I (p.Gly7Ile) variant of RASA1 (Ras GTPase-activating protein 1)
G7I (p.Gly7Ile) in RASA1 (Ras GTPase-activating protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G7I (p.Gly7Ile) variant details
- p.Gly7Ile
- gnomAD 5-87269258-CGG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 13.20
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.366
- Literature evidence available