G335D (p.Gly335Asp) variant of TARDBP (TAR DNA-binding protein 43)
G335D (p.Gly335Asp) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature.
G335D (p.Gly335Asp) variant details
- p.Gly335Asp
- rs80356729
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.22
- Cited in: High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. (PMID 19224587)