D13H (p.Asp13His) variant of TARDBP (TAR DNA-binding protein 43)
D13H (p.Asp13His) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D13H (p.Asp13His) variant details
- p.Asp13His
- rs1643462850
- gnomAD 1-11013764-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.43
- MetaLR 0.73
- MetaSVM 0.57
- CADD 32.00
- PolyPhen-2 0.86
- SIFT 0.01
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.0253
- Literature evidence available