Q2H (p.Gln2His) variant of SHANK3 (Q9BYB0)
Q2H (p.Gln2His) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Q2H (p.Gln2His) variant details
- p.Gln2His
- gnomAD 22-50674698-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.08
- CADD 23.10
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available