L21V (p.Leu21Val) variant of SHANK3 (Q9BYB0)
L21V (p.Leu21Val) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L21V (p.Leu21Val) variant details
- p.Leu21Val
- gnomAD 22-50675054-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.05
- CADD 22.80
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available