D151N (p.Asp151Asn) variant of SHANK2 (Q9UPX8)
D151N (p.Asp151Asn) in SHANK2 (Q9UPX8) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
D151N (p.Asp151Asn) variant details
- p.Asp151Asn
- TOPMed rs967203648
- gnomAD rs967203648
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- CADD 23.20
- PolyPhen-2 0.07
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)