D23N (p.Asp23Asn) variant of TARDBP (TAR DNA-binding protein 43)
D23N (p.Asp23Asn) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D23N (p.Asp23Asn) variant details
- p.Asp23Asn
- rs375089732
- gnomAD 1-11013794-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.48
- MetaLR 0.53
- MetaSVM 0.06
- CADD 24.50
- SIFT 0.14
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.396
- Literature evidence available