L42L (p.Leu42Leu) variant of RASA1 (Ras GTPase-activating protein 1)
L42L (p.Leu42Leu) in RASA1 (Ras GTPase-activating protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L42L (p.Leu42Leu) variant details
- p.Leu42Leu
- rs1753672813
- gnomAD 5-87268575-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.202
- CADD 5.64
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.969
- Literature evidence available