N109S (p.Asn109Ser) variant of SHANK2 (Q9UPX8)
N109S (p.Asn109Ser) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
N109S (p.Asn109Ser) variant details
- p.Asn109Ser
- TOPMed rs1235633860
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 11.20
- PolyPhen-2 0.06
- SIFT 0.24
- Most common in the East Asian population (allele frequency 0.00011)