Q105H (p.Gln105His) variant of SHANK2 (Q9UPX8)
Q105H (p.Gln105His) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
Q105H (p.Gln105His) variant details
- p.Gln105His
- TOPMed rs1277123294
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)