T24N (p.Thr24Asn) variant of BTD (Biotinidase)
T24N (p.Thr24Asn) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
T24N (p.Thr24Asn) variant details
- p.Thr24Asn
- cosmic curated COSV57728
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.25
- CADD 8.47
- PolyPhen-2 0.02
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available