K7N (p.Lys7Asn) variant of BTD (Biotinidase)
K7N (p.Lys7Asn) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
K7N (p.Lys7Asn) variant details
- p.Lys7Asn
- rs2125437184
- gnomAD 3-15631478-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.11
- CADD 20.40
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- Literature evidence available