L42P (p.Leu42Pro) variant of RASA1 (Ras GTPase-activating protein 1)
L42P (p.Leu42Pro) 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, and structural context.
L42P (p.Leu42Pro) variant details
- p.Leu42Pro
- Ensembl rs74392217
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.24
- CADD 23.70
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.969