C15G (p.Cys15Gly) variant of BTD (Biotinidase)
C15G (p.Cys15Gly) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
C15G (p.Cys15Gly) variant details
- p.Cys15Gly
- gnomAD 3-15635482-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.40
- CADD 23.90
- PolyPhen-2 0.48
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available