H14Y (p.His14Tyr) variant of SHANK1 (Q9Y566)
H14Y (p.His14Tyr) in SHANK1 (Q9Y566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
H14Y (p.His14Tyr) variant details
- p.His14Tyr
- TOPMed rs2089076746
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.13
- MetaLR 0.05
- MetaSVM -1.05
- CADD 23.00
- PolyPhen-2 0.06
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available