Q116K (p.Gln116Lys) variant of WWTR1 (Q9GZV5)
Q116K (p.Gln116Lys) in WWTR1 (Q9GZV5) is a missense change. 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.
Q116K (p.Gln116Lys) variant details
- p.Gln116Lys
- gnomAD rs1295140730
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.11
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.90
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available