Q2E (p.Gln2Glu) variant of SHANK3 (Q9BYB0)
Q2E (p.Gln2Glu) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q2E (p.Gln2Glu) variant details
- p.Gln2Glu
- gnomAD 22-50674696-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.04
- CADD 21.70
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available