E23K (p.Glu23Lys) variant of BDNF (P23560)
E23K (p.Glu23Lys) in BDNF (P23560) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of Obesity. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
E23K (p.Glu23Lys) variant details
- p.Glu23Lys
- cosmic curated COSV10883
- Ensembl rs2133784956
- Benign
- Obesity
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- CADD 19.30
- ClinVar: Benign (Obesity)
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.7e-05)