K7M (p.Lys7Met) variant of BTD (Biotinidase)
K7M (p.Lys7Met) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
K7M (p.Lys7Met) variant details
- p.Lys7Met
- rs1337778814
- gnomAD 3-15601888-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.20
- CADD 7.29
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Literature evidence available