A66S (p.Ala66Ser) variant of TARDBP (TAR DNA-binding protein 43)
A66S (p.Ala66Ser) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A66S (p.Ala66Ser) variant details
- p.Ala66Ser
- gnomAD 1-11013923-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.07
- MetaLR 0.70
- MetaSVM 0.02
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.81
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.607
- Literature evidence available