W140C (p.Trp140Cys) variant of ABCC6 (O95255)
W140C (p.Trp140Cys) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar 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 0.67 / 1. The record also includes population frequency data and structural context.
W140C (p.Trp140Cys) variant details
- p.Trp140Cys
- TOPMed rs1242802005
- gnomAD rs1242802005
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.57
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available