E12K (p.Glu12Lys) variant of SHANK1 (Q9Y566)
E12K (p.Glu12Lys) in SHANK1 (Q9Y566) 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 and structural context.
E12K (p.Glu12Lys) variant details
- p.Glu12Lys
- TOPMed rs1200412558
- gnomAD rs1200412558
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.11
- MetaLR 0.07
- MetaSVM -1.02
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3.5e-05)
- Structural context available