S2A (p.Ser2Ala) variant of TARDBP (TAR DNA-binding protein 43)
S2A (p.Ser2Ala) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S2A (p.Ser2Ala) variant details
- p.Ser2Ala
- gnomAD 1-11013731-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.04
- MetaLR 0.43
- MetaSVM -0.41
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.23
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.351
- Literature evidence available