L42F (p.Leu42Phe) variant of RASA1 (Ras GTPase-activating protein 1)
L42F (p.Leu42Phe) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L42F (p.Leu42Phe) variant details
- p.Leu42Phe
- gnomAD 5-87269285-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- CADD 11.70
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.969
- Literature evidence available