A22S (p.Ala22Ser) variant of BTD (Biotinidase)
A22S (p.Ala22Ser) in BTD (Biotinidase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A22S (p.Ala22Ser) variant details
- p.Ala22Ser
- ExAC rs761112772
- gnomAD rs761112772
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.25
- AlphaMissense 0.09
- MetaLR 0.69
- MetaSVM -0.06
- CADD 16.80
- PolyPhen-2 0.38
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available