S6I (p.Ser6Ile) variant of BTD (Biotinidase)
S6I (p.Ser6Ile) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S6I (p.Ser6Ile) variant details
- p.Ser6Ile
- rs756367542
- gnomAD 3-15601891-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.14
- CADD 6.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available