S60L (p.Ser60Leu) variant of WWTR1 (Q9GZV5)
S60L (p.Ser60Leu) 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 0.39 / 1. The record also includes population frequency data and structural context.
S60L (p.Ser60Leu) variant details
- p.Ser60Leu
- ExAC rs772542532
- TOPMed rs772542532
- gnomAD rs772542532
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.15
- CADD 25.20
- PolyPhen-2 0.06
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available