A47T (p.Ala47Thr) variant of SHANK1 (Q9Y566)
A47T (p.Ala47Thr) in SHANK1 (Q9Y566) is a missense change. Clinical records from ClinVar 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 0.24 / 1. The record also includes population frequency data and structural context.
A47T (p.Ala47Thr) variant details
- p.Ala47Thr
- TOPMed rs1162796795
- gnomAD rs1162796795
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.01
- MetaLR 0.06
- MetaSVM -1.02
- CADD 9.44
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available