G14R (p.Gly14Arg) variant of BTD (Biotinidase)
G14R (p.Gly14Arg) in BTD (Biotinidase) 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 0.44 / 1. The record also includes structural context.
G14R (p.Gly14Arg) variant details
- p.Gly14Arg
- rs119103232
- ClinGen CA351602804
- ClinVar RCV000998007
- ExAC rs119103232
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- AlphaMissense 0.11
- MetaLR 0.54
- MetaSVM -0.14
- PolyPhen-2 0.23
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available