G32E (p.Gly32Glu) variant of SHANK1 (Q9Y566)
G32E (p.Gly32Glu) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G32E (p.Gly32Glu) variant details
- p.Gly32Glu
- cosmic curated COSV10880
- TOPMed rs2089075812
- gnomAD rs2089075812
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.10
- MetaLR 0.03
- MetaSVM -1.02
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available