A8V (p.Ala8Val) variant of SHANK3 (Q9BYB0)
A8V (p.Ala8Val) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- gnomAD 22-50674664-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.04
- CADD 22.50
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available