T983A (p.Thr983Ala) variant of ABCA4 (P78363)
T983A (p.Thr983Ala) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinitis pigmentosa; Severe early-childhood-onset retinal dystrophy; Retinal dy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
T983A (p.Thr983Ala) variant details
- p.Thr983Ala
- rs1368508052
- ClinGen CA341275224
- ClinVar RCV001040117
- ClinVar RCV001352962
- Pathogenic/Likely pathogenic
- Retinitis pigmentosa; Severe early-childhood-onset retinal dystrophy; Retinal dy
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.87
- MetaLR 0.85
- MetaSVM 0.91
- CADD 25.40
- PolyPhen-2 0.94
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Retinitis pigmentosa; Severe early-childhood-onset retinal dystr)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)