A79S (p.Ala79Ser) variant of WWTR1 (Q9GZV5)
A79S (p.Ala79Ser) in WWTR1 (Q9GZV5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A79S (p.Ala79Ser) variant details
- p.Ala79Ser
- cosmic curated COSV62290
- ExAC rs756242761
- TOPMed rs756242761
- gnomAD rs756242761
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.03
- CADD 16.70
- PolyPhen-2 0.04
- SIFT 0.47
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00012)
- Structural context available