Q1897H (p.Gln1897His) variant of ABCA4 (P78363)
Q1897H (p.Gln1897His) 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; Stargardt disease; Severe early-childhood-onset retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes structural context.
Q1897H (p.Gln1897His) variant details
- p.Gln1897His
- rs771092150
- ClinGen CA341280743
- ClinVar RCV001296443
- ClinVar RCV001352990
- Likely pathogenic
- not provided; Stargardt disease; Severe early-childhood-onset retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- AlphaMissense 0.45
- MetaLR 0.53
- MetaSVM -0.05
- PolyPhen-2 1.00
- SIFT 0.05
- MutPred 0.54
- ClinVar: Likely pathogenic (Severe early-childhood-onset retinal dystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available