A60T (p.Ala60Thr) variant of ABCA4 (P78363)
A60T (p.Ala60Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
A60T (p.Ala60Thr) variant details
- p.Ala60Thr
- rs61751411
- ClinGen CA226928
- ClinVar RCV000085425
- UniProt VAR 012497
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- AlphaMissense 0.66
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.75
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Structural context available
- Cited in: A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular… (PMID 10958763)
- Cited in: The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and… (PMID 10090887)