W12C (p.Trp12Cys) variant of ABCA4 (P78363)
W12C (p.Trp12Cys) in ABCA4 (P78363) 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 0.80 / 1. The record also includes population frequency data and structural context.
W12C (p.Trp12Cys) variant details
- p.Trp12Cys
- rs761209432
- ClinGen CA341288721
- ClinVar RCV002039758
- TOPMed rs761209432
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.83
- AlphaMissense 0.85
- MetaLR 0.87
- MetaSVM 0.95
- CADD 28.70
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available