V54V (p.Val54Val) variant of TARDBP (TAR DNA-binding protein 43)
V54V (p.Val54Val) in TARDBP (TAR DNA-binding protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V54V (p.Val54Val) variant details
- p.Val54Val
- gnomAD 1-11013889-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.138
- CADD 8.70
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.24
- Literature evidence available