M51R (p.Met51Arg) variant of TARDBP (TAR DNA-binding protein 43)
M51R (p.Met51Arg) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M51R (p.Met51Arg) variant details
- p.Met51Arg
- gnomAD 1-11013879-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.58
- MetaLR 0.41
- MetaSVM -0.40
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.315
- Literature evidence available