V74E (p.Val74Glu) variant of ABCC6 (O95255)
V74E (p.Val74Glu) in ABCC6 (O95255) 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 0.41 / 1. The record also includes structural context.
V74E (p.Val74Glu) variant details
- p.Val74Glu
- rs2141220850
- ClinGen CA394893688
- ClinVar RCV001814661
- Ensembl rs2141220850
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- AlphaMissense 0.66
- MetaLR 0.18
- MetaSVM -0.74
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.64
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in PXE)
- UniProt: Uncertain significance (in PXE)
- Structural context available