A39S (p.Ala39Ser) variant of SHANK3 (Q9BYB0)
A39S (p.Ala39Ser) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A39S (p.Ala39Ser) variant details
- p.Ala39Ser
- gnomAD 22-50675087-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.06
- CADD 20.50
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available