D117N (p.Asp117Asn) variant of SHANK2 (Q9UPX8)
D117N (p.Asp117Asn) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
D117N (p.Asp117Asn) variant details
- p.Asp117Asn
- Ensembl rs1555100911
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- CADD 25.00
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the East Asian population (allele frequency 5.6e-05)