Q147K (p.Gln147Lys) variant of SHANK2 (Q9UPX8)
Q147K (p.Gln147Lys) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data.
Q147K (p.Gln147Lys) variant details
- p.Gln147Lys
- cosmic curated COSV10648
- ExAC rs201263152
- gnomAD rs201263152
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- CADD 22.70
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0019)