G21E (p.Gly21Glu) variant of BTD (Biotinidase)
G21E (p.Gly21Glu) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G21E (p.Gly21Glu) variant details
- p.Gly21Glu
- TOPMed rs1417002076
- gnomAD rs1417002076
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.42
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available