G12D (p.Gly12Asp) variant of WAS (P42768)
G12D (p.Gly12Asp) in WAS (P42768) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- gnomAD X-48683888-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.43
- CADD 15.00
- PolyPhen-2 0.02
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available
- Literature evidence available