G31D (p.Gly31Asp) variant of BDNF (P23560)
G31D (p.Gly31Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
G31D (p.Gly31Asp) variant details
- p.Gly31Asp
- rs767681787
- ClinGen CA5929143
- ClinVar RCV003408713
- ExAC rs767681787
- Uncertain significance
- BDNF-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.06
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.72
- ClinVar: Uncertain significance (BDNF-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)