W1461C (p.Trp1461Cys) variant of ABCA4 (P78363)
W1461C (p.Trp1461Cys) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Severe early-childhood-onset retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
W1461C (p.Trp1461Cys) variant details
- p.Trp1461Cys
- rs1347261858
- ClinGen CA341285265
- ClinVar RCV001352952
- ClinVar RCV001871907
- Pathogenic/Likely pathogenic
- Severe early-childhood-onset retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.92
- MetaLR 0.92
- MetaSVM 1.01
- CADD 31.00
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Severe early-childhood-onset retinal dystrophy; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available