R13G (p.Arg13Gly) variant of WAS (P42768)
R13G (p.Arg13Gly) in WAS (P42768) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R13G (p.Arg13Gly) variant details
- p.Arg13Gly
- gnomAD X-48683890-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.47
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available