A6V (p.Ala6Val) variant of SHANK3 (Q9BYB0)
A6V (p.Ala6Val) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- gnomAD 22-50674658-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.05
- CADD 19.70
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available