I22T (p.Ile22Thr) variant of WAS (P42768)
I22T (p.Ile22Thr) in WAS (P42768) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
I22T (p.Ile22Thr) variant details
- p.Ile22Thr
- gnomAD X-48683918-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.44
- CADD 17.40
- PolyPhen-2 0.42
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available