S38N (p.Ser38Asn) variant of SHANK3 (Q9BYB0)
S38N (p.Ser38Asn) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S38N (p.Ser38Asn) variant details
- p.Ser38Asn
- gnomAD 22-50675121-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.13
- CADD 27.40
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available