W16C (p.Trp16Cys) variant of PCDH19 (Protocadherin-19)
W16C (p.Trp16Cys) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
W16C (p.Trp16Cys) variant details
- p.Trp16Cys
- ExAC rs780814145
- TOPMed rs780814145
- gnomAD rs780814145
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.22
- CADD 23.40
- PolyPhen-2 0.54
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available