H40Y (p.His40Tyr) variant of BDNF (P23560)
H40Y (p.His40Tyr) in BDNF (P23560) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
H40Y (p.His40Tyr) variant details
- p.His40Tyr
- Ensembl rs1852854398
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.33
- CADD 25.70
- PolyPhen-2 0.57
- SIFT 0.08
- Most common in the South Asian population (allele frequency 0.00021)