R38Q (p.Arg38Gln) variant of BDNF (P23560)
R38Q (p.Arg38Gln) 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 0.49 / 1. The record also includes population frequency data.
R38Q (p.Arg38Gln) variant details
- p.Arg38Gln
- rs763357890
- ClinGen CA5929138
- ClinVar RCV003417144
- ExAC rs763357890
- Uncertain significance
- BDNF-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.30
- CADD 22.90
- PolyPhen-2 0.25
- SIFT 0.34
- ClinVar: Uncertain significance (BDNF-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)