S2S (p.Ser2Ser) variant of BTD (Biotinidase)
S2S (p.Ser2Ser) in BTD (Biotinidase) is a synonymous 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.
S2S (p.Ser2Ser) variant details
- p.Ser2Ser
- gnomAD 3-15635445-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.146
- CADD 9.29
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available