I38M (p.Ile38Met) variant of RASA1 (Ras GTPase-activating protein 1)
I38M (p.Ile38Met) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I38M (p.Ile38Met) variant details
- p.Ile38Met
- gnomAD 5-87268565-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.15
- CADD 4.06
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.188
- Literature evidence available