A79D (p.Ala79Asp) variant of WWTR1 (Q9GZV5)
A79D (p.Ala79Asp) in WWTR1 (Q9GZV5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A79D (p.Ala79Asp) variant details
- p.Ala79Asp
- TOPMed rs1000960963
- gnomAD rs1000960963
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.08
- CADD 23.80
- PolyPhen-2 0.15
- SIFT 0.01
- Most common in the South Asian population (allele frequency 3.6e-05)
- Structural context available