K17E (p.Lys17Glu) variant of BDNF (P23560)
K17E (p.Lys17Glu) in BDNF (P23560) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
K17E (p.Lys17Glu) variant details
- p.Lys17Glu
- rs750397219
- ClinGen CA5929146
- ClinVar RCV003008479
- ExAC rs750397219
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.18
- CADD 23.00
- PolyPhen-2 0.05
- SIFT 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)