Q93H (p.Gln93His) variant of SHANK2 (Q9UPX8)
Q93H (p.Gln93His) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
Q93H (p.Gln93His) variant details
- p.Gln93His
- 1000Genomes rs563452320
- ExAC rs563452320
- gnomAD rs563452320
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- CADD 19.50
- PolyPhen-2 0.99
- SIFT 0.25
- Most common in the 1KG:MSL population (allele frequency 0.0063)