A1038V (p.Ala1038Val) variant of ABCA4 (P78363)
A1038V (p.Ala1038Val) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A1038V (p.Ala1038Val) variant details
- p.Ala1038Val
- rs61751374
- ClinGen CA119135
- ClinVar RCV000008348
- ClinVar RCV000008350
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.53
- MetaLR 0.48
- MetaSVM -0.22
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.41
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1, FFM and CORD3)
- UniProt: Pathogenic (in STGD1, FFM and CORD3)
- Most common in the 1KG:GBR population (allele frequency 0.011)
- 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: New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. (PMID 10711710)