V29M (p.Val29Met) variant of BTD (Biotinidase)
V29M (p.Val29Met) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
V29M (p.Val29Met) variant details
- p.Val29Met
- ExAC rs752641015
- gnomAD rs752641015
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.23
- CADD 12.60
- PolyPhen-2 0.21
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available