V36L (p.Val36Leu) variant of RASA1 (Ras GTPase-activating protein 1)
V36L (p.Val36Leu) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V36L (p.Val36Leu) variant details
- p.Val36Leu
- ExAC rs745698926
- TOPMed rs745698926
- gnomAD rs745698926
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.18
- CADD 18.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.874