T2S (p.Thr2Ser) variant of BDNF (P23560)
T2S (p.Thr2Ser) 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.
T2S (p.Thr2Ser) variant details
- p.Thr2Ser
- gnomAD 11-27658560-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.38
- MetaLR 0.26
- MetaSVM -0.63
- CADD 22.60
- PolyPhen-2 0.88
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available