K7Q (p.Lys7Gln) variant of BTD (Biotinidase)
K7Q (p.Lys7Gln) 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.
K7Q (p.Lys7Gln) variant details
- p.Lys7Gln
- rs1334616254
- gnomAD 3-15631476-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.15
- CADD 9.35
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available