L12V (p.Leu12Val) variant of BTD (Biotinidase)
L12V (p.Leu12Val) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L12V (p.Leu12Val) variant details
- p.Leu12Val
- rs1308997618
- gnomAD 3-15631488-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.07
- CADD 8.31
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available