G14V (p.Gly14Val) variant of BTD (Biotinidase)
G14V (p.Gly14Val) 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, published literature, and structural context.
G14V (p.Gly14Val) variant details
- p.Gly14Val
- gnomAD 3-15635480-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.34
- CADD 15.70
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available