S6G (p.Ser6Gly) variant of BTD (Biotinidase)
S6G (p.Ser6Gly) 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.
S6G (p.Ser6Gly) variant details
- p.Ser6Gly
- rs752826506
- gnomAD 3-15601890-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.17
- CADD 5.45
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available