A35T (p.Ala35Thr) variant of BTD (Biotinidase)
A35T (p.Ala35Thr) 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 0.18 / 1. The record also includes population frequency data and structural context.
A35T (p.Ala35Thr) variant details
- p.Ala35Thr
- rs1020171739
- ClinGen CA70613674
- ClinVar RCV003437717
- Ensembl rs1020171739
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.13
- CADD 13.70
- PolyPhen-2 0.11
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available