T971N (p.Thr971Asn) variant of ABCA4 (P78363)
T971N (p.Thr971Asn) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal disorder; Severe early-childhood-onset retinal dystrophy; Age related ma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
T971N (p.Thr971Asn) variant details
- p.Thr971Asn
- rs61749450
- ClinGen CA227050
- ClinVar RCV000085522
- ClinVar RCV000999861
- Pathogenic/Likely pathogenic
- Retinal disorder; Severe early-childhood-onset retinal dystrophy; Age related ma
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.95
- MetaLR 0.99
- MetaSVM 0.98
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal disorder; Severe early-childhood-onset retinal dystrophy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Biochemical defects in ABCR protein variants associated with human retinopathies. (PMID 11017087)
- Cited in: An analysis of allelic variation in the ABCA4 gene. (PMID 11328725)