A22P (p.Ala22Pro) variant of BTD (Biotinidase)
A22P (p.Ala22Pro) 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 0.52 / 1. The record also includes structural context.
A22P (p.Ala22Pro) variant details
- p.Ala22Pro
- rs761112772
- ClinGen CA351602853
- ClinVar RCV001801075
- ExAC rs761112772
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- AlphaMissense 0.09
- MetaLR 0.69
- MetaSVM -0.06
- PolyPhen-2 0.38
- SIFT 0.17
- MutPred 0.38
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available