V46M (p.Val46Met) variant of BDNF (P23560)
V46M (p.Val46Met) in BDNF (P23560) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of BDNF-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data.
V46M (p.Val46Met) variant details
- p.Val46Met
- rs146354977
- ClinGen CA5929134
- ClinVar RCV003393061
- ClinVar RCV003778321
- Uncertain significance
- BDNF-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.08
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (BDNF-related disorder; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.0098)