Q636K (p.Gln636Lys) variant of ABCA4 (P78363)
Q636K (p.Gln636Lys) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Severe early-childhood-onset retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Q636K (p.Gln636Lys) variant details
- p.Gln636Lys
- rs145961131
- ClinGen CA341279281
- ClinVar RCV002634301
- ClinVar RCV005254716
- Pathogenic
- not provided; Severe early-childhood-onset retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.84
- MetaLR 0.82
- MetaSVM 0.77
- CADD 25.60
- PolyPhen-2 0.63
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Severe early-childhood-onset retinal dystrophy)
- EBI: Pathogenic (in CORD3)
- UniProt: Pathogenic (in CORD3)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel… (PMID 26780318)
- Cited in: An analysis of ABCR mutations in British patients with recessive retinal dystrophies. (PMID 10634594)