W32C (p.Trp32Cys) variant of SPTBN4 (Q9H254)
W32C (p.Trp32Cys) in SPTBN4 (Q9H254) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
W32C (p.Trp32Cys) variant details
- p.Trp32Cys
- TOPMed rs1230516341
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- CADD 28.70
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available