p.Tyr5 Ser6del variant of RASA1 (Ras GTPase-activating protein 1)
p.Tyr5 Ser6del in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
p.Tyr5 Ser6del variant details
- gnomAD 5-87269261-ATATAG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 13.30
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.397
- Literature evidence available