T972N (p.Thr972Asn) variant of ABCA4 (P78363)
T972N (p.Thr972Asn) 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 dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
T972N (p.Thr972Asn) variant details
- p.Thr972Asn
- rs61749451
- ClinGen CA227051
- ClinVar RCV000085523
- ClinVar RCV000504717
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.85
- MetaLR 0.93
- MetaSVM 1.06
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Severe early-childhood-onset retinal dystroph)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 7.5e-05)
- Structural context available
- Cited in: Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1). (PMID 11594993)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)