T959A (p.Thr959Ala) variant of ABCA4 (P78363)
T959A (p.Thr959Ala) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Optic atrophy; Retinitis pigmentosa 19; Severe early-childhood-onset retinal dys. 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.
T959A (p.Thr959Ala) variant details
- p.Thr959Ala
- rs368846708
- ClinGen CA958130
- ClinVar RCV000408538
- ClinVar RCV000425865
- Pathogenic/Likely pathogenic
- Optic atrophy; Retinitis pigmentosa 19; Severe early-childhood-onset retinal dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.96
- MetaLR 0.86
- MetaSVM 0.92
- CADD 26.10
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Optic atrophy; Retinitis pigmentosa 19; Severe early-childhood-o)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)