G25R (p.Gly25Arg) variant of BTD (Biotinidase)
G25R (p.Gly25Arg) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G25R (p.Gly25Arg) variant details
- p.Gly25Arg
- rs34885143
- ClinGen CA241269
- cosmic curated COSV10814
- ClinVar RCV000021888
- Conflicting interpretations
- not specified; not provided; Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.43
- CADD 1.12
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Biotinidase deficiency)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:ORCADIAN population (allele frequency 0.036)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)