W1618C (p.Trp1618Cys) variant of ABCA4 (P78363)
W1618C (p.Trp1618Cys) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Severe early-childhood-onset retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
W1618C (p.Trp1618Cys) variant details
- p.Trp1618Cys
- rs61752439
- ClinGen CA957438
- ClinVar RCV001002824
- ClinVar RCV001074894
- Pathogenic
- not provided; Severe early-childhood-onset retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.84
- MetaLR 0.85
- MetaSVM 0.86
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available