H1625Y (p.His1625Tyr) variant of ABCA4 (P78363)
H1625Y (p.His1625Tyr) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Severe early-childhood-onset retinal dystrophy; Cone-rod dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
H1625Y (p.His1625Tyr) variant details
- p.His1625Tyr
- rs1085307968
- ClinGen CA341283189
- ClinVar RCV000489654
- ClinVar RCV001353028
- Pathogenic/Likely pathogenic
- not provided; Severe early-childhood-onset retinal dystrophy; Cone-rod dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- AlphaMissense 0.66
- MetaLR 0.86
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.69
- ClinVar: Pathogenic/Likely pathogenic (not provided; Severe early-childhood-onset retinal dystrophy; Co)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)