T98M (p.Thr98Met) variant of SHANK1 (Q9Y566)
T98M (p.Thr98Met) in SHANK1 (Q9Y566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
T98M (p.Thr98Met) variant details
- p.Thr98Met
- 1000Genomes rs143340442
- ESP rs143340442
- ExAC rs143340442
- TOPMed rs143340442
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.13
- MetaLR 0.02
- MetaSVM -1.01
- CADD 23.60
- PolyPhen-2 0.10
- SIFT 0.02
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available