G97D (p.Gly97Asp) variant of WWTR1 (Q9GZV5)
G97D (p.Gly97Asp) 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 0.24 / 1. The record also includes population frequency data and structural context.
G97D (p.Gly97Asp) variant details
- p.Gly97Asp
- rs761456916
- ClinGen CA85576366
- ClinVar RCV004137667
- ExAC rs761456916
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.06
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available