G52W (p.Gly52Trp) variant of SHANK3 (Q9BYB0)
G52W (p.Gly52Trp) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G52W (p.Gly52Trp) variant details
- p.Gly52Trp
- rs1259405399
- gnomAD 22-50675144-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.43
- CADD 30.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available