G99S (p.Gly99Ser) variant of WWTR1 (Q9GZV5)
G99S (p.Gly99Ser) 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 0.20 / 1. The record also includes population frequency data and structural context.
G99S (p.Gly99Ser) variant details
- p.Gly99Ser
- TOPMed rs1459922346
- gnomAD rs1459922346
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.03
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 0.50
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available