A8P (p.Ala8Pro) variant of SHANK3 (Q9BYB0)
A8P (p.Ala8Pro) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A8P (p.Ala8Pro) variant details
- p.Ala8Pro
- rs2082904718
- gnomAD 22-50674663-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.11
- CADD 24.70
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available