P16L (p.Pro16Leu) variant of WAS (P42768)
P16L (p.Pro16Leu) in WAS (P42768) 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, published literature, and structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- gnomAD X-48683900-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.38
- CADD 11.00
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available
- Literature evidence available