V44L (p.Val44Leu) variant of RASA1 (Ras GTPase-activating protein 1)
V44L (p.Val44Leu) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V44L (p.Val44Leu) variant details
- p.Val44Leu
- Ensembl rs2112222327
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.07
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.523