P19A (p.Pro19Ala) variant of TARDBP (TAR DNA-binding protein 43)
P19A (p.Pro19Ala) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P19A (p.Pro19Ala) variant details
- p.Pro19Ala
- gnomAD 1-11013782-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.68
- MetaLR 0.77
- MetaSVM 0.68
- CADD 26.30
- PolyPhen-2 0.90
- SIFT 0.00
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.586
- Literature evidence available