D41E (p.Asp41Glu) variant of SHANK3 (Q9BYB0)
D41E (p.Asp41Glu) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
D41E (p.Asp41Glu) variant details
- p.Asp41Glu
- gnomAD 22-50674647-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.04
- CADD 17.40
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available