D41N (p.Asp41Asn) variant of SHANK3 (Q9BYB0)
D41N (p.Asp41Asn) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
D41N (p.Asp41Asn) variant details
- p.Asp41Asn
- gnomAD 22-50674645-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.08
- CADD 25.70
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available