W15C (p.Trp15Cys) variant of ABCA4 (P78363)
W15C (p.Trp15Cys) in ABCA4 (P78363) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
W15C (p.Trp15Cys) variant details
- p.Trp15Cys
- TOPMed rs62645957
- gnomAD rs62645957
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.85
- MetaLR 0.95
- MetaSVM 1.11
- CADD 28.70
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available