Q94H (p.Gln94His) variant of SHANK3 (Q9BYB0)
Q94H (p.Gln94His) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
Q94H (p.Gln94His) variant details
- p.Gln94His
- gnomAD 22-50675155-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.18
- CADD 26.20
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available