G25W (p.Gly25Trp) variant of BTD (Biotinidase)
G25W (p.Gly25Trp) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G25W (p.Gly25Trp) variant details
- p.Gly25Trp
- gnomAD 3-15635512-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.39
- CADD 6.74
- PolyPhen-2 0.49
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available