N76S (p.Asn76Ser) variant of TARDBP (TAR DNA-binding protein 43)
N76S (p.Asn76Ser) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
N76S (p.Asn76Ser) variant details
- p.Asn76Ser
- rs142913423
- gnomAD 1-11013954-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.21
- MetaLR 0.81
- MetaSVM 0.33
- CADD 23.70
- PolyPhen-2 0.13
- SIFT 0.86
- Population evidence available
- Structural context available
- Literature evidence available