P16S (p.Pro16Ser) variant of WAS (P42768)
P16S (p.Pro16Ser) in WAS (P42768) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P16S (p.Pro16Ser) variant details
- p.Pro16Ser
- gnomAD X-48683899-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.39
- CADD 1.05
- PolyPhen-2 0.01
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available