S66G (p.Ser66Gly) variant of WWTR1 (Q9GZV5)
S66G (p.Ser66Gly) in WWTR1 (Q9GZV5) is a missense change. Clinical records from ClinVar, EBI, 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 0.42 / 1. The record also includes population frequency data and structural context.
S66G (p.Ser66Gly) variant details
- p.Ser66Gly
- rs2472810232
- ClinGen CA354928410
- ClinVar RCV004309872
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.24
- CADD 29.80
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available