A19V (p.Ala19Val) variant of BDNF (P23560)
A19V (p.Ala19Val) in BDNF (P23560) 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 0.62 / 1. The record also includes population frequency data.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- NCI-TCGA TCGA novel
- TOPMed rs1852864621
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.48
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)