Y340S (p.Tyr340Ser) variant of ABCA4 (P78363)
Y340S (p.Tyr340Ser) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Stargardt disease; not provided; Severe early-childhood-onset retinal dystrophy. 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.
Y340S (p.Tyr340Ser) variant details
- p.Tyr340Ser
- rs1191143782
- ClinGen CA341284121
- ClinVar RCV001297313
- ClinVar RCV005029864
- Pathogenic/Likely pathogenic
- Stargardt disease; not provided; Severe early-childhood-onset retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- AlphaMissense 0.77
- MetaLR 0.81
- MetaSVM 0.78
- PolyPhen-2 0.94
- SIFT 0.00
- MutPred 0.60
- ClinVar: Pathogenic/Likely pathogenic (Stargardt disease; not provided; Severe early-childhood-onset re)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Population evidence available
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)