Q116R (p.Gln116Arg) variant of WWTR1 (Q9GZV5)
Q116R (p.Gln116Arg) in WWTR1 (Q9GZV5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Q116R (p.Gln116Arg) variant details
- p.Gln116Arg
- rs763707772
- ClinGen CA2662399
- ClinVar RCV003437966
- ExAC rs763707772
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.04
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.90
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0026)
- Structural context available