T86I (p.Thr86Ile) variant of ABCA4 (P78363)
T86I (p.Thr86Ile) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
T86I (p.Thr86Ile) variant details
- p.Thr86Ile
- rs1463176839
- ClinGen CA341285435
- ClinVar RCV002576380
- TOPMed rs1463176839
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.89
- MetaLR 0.99
- MetaSVM 1.01
- CADD 26.30
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available