T86N (p.Thr86Asn) variant of ABCA4 (P78363)
T86N (p.Thr86Asn) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Severe early-childhood-onset retinal dystrophy. The record also includes variant effect predictions and structural context.
T86N (p.Thr86Asn) variant details
- p.Thr86Asn
- TOPMed rs1463176839
- gnomAD rs1463176839
- Uncertain significance
- Severe early-childhood-onset retinal dystrophy
- Missense
- MetaLR 0.99
- MetaSVM 1.01
- SIFT 0.00
- ClinVar: Uncertain significance (Severe early-childhood-onset retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available