A79P (p.Ala79Pro) variant of WWTR1 (Q9GZV5)
A79P (p.Ala79Pro) in WWTR1 (Q9GZV5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A79P (p.Ala79Pro) variant details
- p.Ala79Pro
- ExAC rs756242761
- TOPMed rs756242761
- gnomAD rs756242761
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.07
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available