K7K (p.Lys7Lys) variant of BTD (Biotinidase)
K7K (p.Lys7Lys) in BTD (Biotinidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
K7K (p.Lys7Lys) variant details
- p.Lys7Lys
- rs781354864
- gnomAD 3-15601889-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 10.70
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available