Y12H (p.Tyr12His) variant of BDNF (P23560)
Y12H (p.Tyr12His) in BDNF (P23560) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and published literature.
Y12H (p.Tyr12His) variant details
- p.Tyr12His
- gnomAD 11-27658531-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.45
- MetaLR 0.23
- MetaSVM -0.67
- CADD 27.50
- PolyPhen-2 0.94
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available