G89R (p.Gly89Arg) variant of WAS (P42768)
G89R (p.Gly89Arg) in WAS (P42768) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
G89R (p.Gly89Arg) variant details
- p.Gly89Arg
- gnomAD X-48684415-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.70
- CADD 23.30
- PolyPhen-2 0.79
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available