G60R (p.Gly60Arg) variant of WAS (P42768)
G60R (p.Gly60Arg) in WAS (P42768) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G60R (p.Gly60Arg) variant details
- p.Gly60Arg
- gnomAD X-48684328-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.43
- CADD 20.70
- PolyPhen-2 0.09
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available