A18V (p.Ala18Val) variant of RASA1 (Ras GTPase-activating protein 1)
A18V (p.Ala18Val) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- gnomAD 5-87268504-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.15
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.513
- Literature evidence available