V18L (p.Val18Leu) variant of BTD (Biotinidase)
V18L (p.Val18Leu) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V18L (p.Val18Leu) variant details
- p.Val18Leu
- gnomAD 3-15635491-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.79
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available