N55D (p.Asn55Asp) variant of SHANK2 (Q9UPX8)
N55D (p.Asn55Asp) in SHANK2 (Q9UPX8) 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 0.16 / 1. The record also includes population frequency data.
N55D (p.Asn55Asp) variant details
- p.Asn55Asp
- ExAC rs782296061
- TOPMed rs782296061
- gnomAD rs782296061
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)