Q67K (p.Gln67Lys) variant of SHANK2 (Q9UPX8)
Q67K (p.Gln67Lys) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
Q67K (p.Gln67Lys) variant details
- p.Gln67Lys
- ExAC rs782661932
- gnomAD rs782661932
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- CADD 23.40
- PolyPhen-2 0.97
- SIFT 0.55
- Most common in the South Asian population (allele frequency 1.3e-05)