W31R (p.Trp31Arg) variant of ABCA4 (P78363)
W31R (p.Trp31Arg) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
W31R (p.Trp31Arg) variant details
- p.Trp31Arg
- rs1193865484
- ClinGen CA341286761
- ClinVar RCV002664174
- TOPMed rs1193865484
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.86
- MetaLR 0.86
- MetaSVM 0.94
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available