D10N (p.Asp10Asn) variant of SHANK2 (Q9UPX8)
D10N (p.Asp10Asn) 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 0.74 / 1. The record also includes population frequency data.
D10N (p.Asp10Asn) variant details
- p.Asp10Asn
- TOPMed rs1555106917
- gnomAD rs1555106917
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- CADD 24.90
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.4e-05)