I40F (p.Ile40Phe) variant of ABCA4 (P78363)
I40F (p.Ile40Phe) 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 0.58 / 1. The record also includes population frequency data and structural context.
I40F (p.Ile40Phe) variant details
- p.Ile40Phe
- rs761112891
- ClinGen CA341286606
- ClinVar RCV001051277
- ExAC rs761112891
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.54
- MetaLR 0.70
- MetaSVM 0.50
- CADD 23.50
- PolyPhen-2 0.26
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available