K146E (p.Lys146Glu) variant of SHANK2 (Q9UPX8)
K146E (p.Lys146Glu) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
K146E (p.Lys146Glu) variant details
- p.Lys146Glu
- TOPMed rs1471210445
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 22.90
- PolyPhen-2 0.05
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 3.3e-05)