C143F (p.Cys143Phe) variant of ABCC6 (O95255)
C143F (p.Cys143Phe) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ABCC6-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
C143F (p.Cys143Phe) variant details
- p.Cys143Phe
- TOPMed rs1330987157
- gnomAD rs1330987157
- Uncertain significance
- ABCC6-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.14
- CADD 23.00
- PolyPhen-2 0.28
- SIFT 0.00
- ClinVar: Uncertain significance (ABCC6-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5.2e-05)
- Structural context available