Q841P (p.Gln841Pro) variant of ABCA4 (P78363)
Q841P (p.Gln841Pro) 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; Stargardt disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Q841P (p.Gln841Pro) variant details
- p.Gln841Pro
- rs2101067700
- ClinGen CA341276903
- ClinVar RCV002042109
- ClinVar RCV004801062
- Pathogenic/Likely pathogenic
- not provided; Stargardt disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.24
- MetaLR 0.10
- MetaSVM -1.03
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Pathogenic/Likely pathogenic (not provided; Stargardt disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available