I38L (p.Ile38Leu) variant of RASA1 (Ras GTPase-activating protein 1)
I38L (p.Ile38Leu) in RASA1 (Ras GTPase-activating protein 1) is a missense 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, and structural context.
I38L (p.Ile38Leu) variant details
- p.Ile38Leu
- gnomAD rs1366425562
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.16
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.188