E5R (p.Glu5Arg) variant of RASA1 (Ras GTPase-activating protein 1)
E5R (p.Glu5Arg) in RASA1 (Ras GTPase-activating protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E5R (p.Glu5Arg) variant details
- p.Glu5Arg
- gnomAD 5-87268456-TGGCGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.565
- CADD 32.00
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.331
- Literature evidence available