A100T (p.Ala100Thr) variant of WWTR1 (Q9GZV5)
A100T (p.Ala100Thr) in WWTR1 (Q9GZV5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A100T (p.Ala100Thr) variant details
- p.Ala100Thr
- rs763906518
- ExAC rs763906518
- gnomAD rs763906518
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.07
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.32
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available