G14C (p.Gly14Cys) variant of BTD (Biotinidase)
G14C (p.Gly14Cys) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G14C (p.Gly14Cys) variant details
- p.Gly14Cys
- gnomAD 3-15635479-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.36
- CADD 14.50
- PolyPhen-2 0.02
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available