S4N (p.Ser4Asn) variant of SHANK3 (Q9BYB0)
S4N (p.Ser4Asn) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S4N (p.Ser4Asn) variant details
- p.Ser4Asn
- gnomAD 22-50674661-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.06
- CADD 15.10
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available