I38V (p.Ile38Val) variant of RASA1 (Ras GTPase-activating protein 1)
I38V (p.Ile38Val) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I38V (p.Ile38Val) variant details
- p.Ile38Val
- gnomAD 5-87268563-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.14
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.63
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.188
- Literature evidence available