P15S (p.Pro15Ser) variant of TARDBP (TAR DNA-binding protein 43)
P15S (p.Pro15Ser) 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.
P15S (p.Pro15Ser) variant details
- p.Pro15Ser
- gnomAD 1-11013770-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.49
- MetaLR 0.66
- MetaSVM 0.47
- CADD 24.60
- PolyPhen-2 0.33
- SIFT 0.10
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.163
- Literature evidence available