H62R (p.His62Arg) variant of TARDBP (TAR DNA-binding protein 43)
H62R (p.His62Arg) in TARDBP (TAR DNA-binding protein 43) 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, experimental measurements, published literature, and structural context.
H62R (p.His62Arg) variant details
- p.His62Arg
- gnomAD 1-11013912-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.38
- MetaLR 0.82
- MetaSVM 0.35
- CADD 24.80
- PolyPhen-2 0.22
- SIFT 0.01
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score 0.218
- Literature evidence available