H30R (p.His30Arg) variant of WAS (P42768)
H30R (p.His30Arg) 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 and structural context.
H30R (p.His30Arg) variant details
- p.His30Arg
- ExAC rs782794812
- gnomAD rs782794812
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.52
- CADD 20.40
- PolyPhen-2 0.31
- SIFT 0.08
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available