T16I (p.Thr16Ile) variant of ABCA4 (P78363)
T16I (p.Thr16Ile) 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 0.64 / 1. The record also includes population frequency data and structural context.
T16I (p.Thr16Ile) variant details
- p.Thr16Ile
- rs949028237
- ClinGen CA26845223
- ClinVar RCV001347841
- TOPMed rs949028237
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.66
- MetaLR 0.76
- MetaSVM 0.49
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available