I48V (p.Ile48Val) variant of BTD (Biotinidase)
I48V (p.Ile48Val) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
I48V (p.Ile48Val) variant details
- p.Ile48Val
- rs114092911
- ClinGen CA2277259
- ClinVar RCV000633686
- ClinVar RCV003478355
- Benign/Likely benign
- not provided; Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.17
- CADD 0.84
- PolyPhen-2 0.01
- SIFT 0.28
- ClinVar: Benign/Likely benign (not provided; Biotinidase deficiency)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)