Q127K (p.Gln127Lys) variant of SHANK2 (Q9UPX8)
Q127K (p.Gln127Lys) 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.
Q127K (p.Gln127Lys) variant details
- p.Gln127Lys
- TOPMed rs1366247172
- gnomAD rs1366247172
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- CADD 17.80
- Most common in the African/African-American population (allele frequency 2.4e-05)