N55H (p.Asn55His) variant of SHANK2 (Q9UPX8)
N55H (p.Asn55His) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data.
N55H (p.Asn55His) variant details
- p.Asn55His
- ExAC rs782296061
- TOPMed rs782296061
- gnomAD rs782296061
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the South Asian population (allele frequency 5e-05)