G104D (p.Gly104Asp) variant of WWTR1 (Q9GZV5)
G104D (p.Gly104Asp) in WWTR1 (Q9GZV5) is a missense change. Clinical records from ClinVar 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 0.14 / 1. The record also includes population frequency data and structural context.
G104D (p.Gly104Asp) variant details
- p.Gly104Asp
- 1000Genomes rs201754525
- ExAC rs201754525
- TOPMed rs201754525
- gnomAD rs201754525
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.10
- CADD 2.99
- PolyPhen-2 0.01
- SIFT 0.32
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available