D41V (p.Asp41Val) variant of SHANK3 (Q9BYB0)
D41V (p.Asp41Val) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
D41V (p.Asp41Val) variant details
- p.Asp41Val
- gnomAD 22-50674646-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.09
- CADD 26.10
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available