D41G (p.Asp41Gly) variant of SHANK3 (Q9BYB0)
D41G (p.Asp41Gly) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
D41G (p.Asp41Gly) variant details
- p.Asp41Gly
- gnomAD 22-50674646-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.06
- CADD 27.70
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available