I55V (p.Ile55Val) variant of ABCC6 (O95255)
I55V (p.Ile55Val) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
I55V (p.Ile55Val) variant details
- p.Ile55Val
- ESP rs372062746
- ExAC rs372062746
- TOPMed rs372062746
- gnomAD rs372062746
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0913
- REVEL 0.04
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00047)
- Structural context available