G3S (p.Gly3Ser) variant of BTD (Biotinidase)
G3S (p.Gly3Ser) in BTD (Biotinidase) is a missense 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.
G3S (p.Gly3Ser) variant details
- p.Gly3Ser
- gnomAD 3-15601872-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.20
- CADD 5.00
- Population evidence available
- Structural context available
- Literature evidence available