T959S (p.Thr959Ser) variant of ABCA4 (P78363)
T959S (p.Thr959Ser) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of ABCA4-related disorder; not provided; Severe early-childhood-onset retinal dystr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
T959S (p.Thr959Ser) variant details
- p.Thr959Ser
- rs368846708
- ClinGen CA958129
- ClinVar RCV000488184
- ClinVar RCV001099950
- Conflicting interpretations
- ABCA4-related disorder; not provided; Severe early-childhood-onset retinal dystr
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.92
- MetaLR 0.86
- MetaSVM 0.93
- CADD 25.00
- PolyPhen-2 0.61
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (ABCA4-related disorder; not provided; Severe early-childhood-ons)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Non-Finnish European population (allele frequency 0.00013)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)