D112N (p.Asp112Asn) variant of SHANK2 (Q9UPX8)
D112N (p.Asp112Asn) in SHANK2 (Q9UPX8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
D112N (p.Asp112Asn) variant details
- p.Asp112Asn
- TOPMed rs1447212040
- gnomAD rs1447212040
- Uncertain significance
- Intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- CADD 19.60
- PolyPhen-2 0.18
- SIFT 0.02
- ClinVar: Uncertain significance (Intellectual disability)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)