A19V (p.Ala19Val) variant of BTD (Biotinidase)
A19V (p.Ala19Val) in BTD (Biotinidase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- rs1310040913
- NCI-TCGA Cosmic COSV5772
- cosmic curated COSV57729
- gnomAD rs1310040913
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.34
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available