A4T (p.Ala4Thr) variant of WWTR1 (Q9GZV5)
A4T (p.Ala4Thr) in WWTR1 (Q9GZV5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- TOPMed rs1713301106
- gnomAD rs1713301106
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.09
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- WWTR1 WW domain domainome 1.0: score 0.048