W2110R (p.Trp2110Arg) variant of ABCA4 (P78363)
W2110R (p.Trp2110Arg) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Retinal disorder. 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.
W2110R (p.Trp2110Arg) variant details
- p.Trp2110Arg
- rs2523624821
- ClinGen CA341277546
- ClinVar RCV003149344
- ClinVar RCV006561094
- Likely pathogenic
- not provided; Retinal disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.93
- MetaLR 0.91
- MetaSVM 1.08
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Retinal disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available