A60V (p.Ala60Val) variant of ABCA4 (P78363)
A60V (p.Ala60Val) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Severe early-childhood-onset retinal dystrophy; Cone-rod dystrophy 3; Retinitis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
A60V (p.Ala60Val) variant details
- p.Ala60Val
- rs55732384
- ClinGen CA226931
- ClinVar RCV000085427
- ClinVar RCV000408452
- Pathogenic/Likely pathogenic
- Severe early-childhood-onset retinal dystrophy; Cone-rod dystrophy 3; Retinitis
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.93
- AlphaMissense 0.74
- MetaLR 0.98
- MetaSVM 1.08
- CADD 28.10
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Severe early-childhood-onset retinal dystrophy; Cone-rod dystrop)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. (PMID 10206579)
- Cited in: Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. (PMID 11527935)