A65P (p.Ala65Pro) variant of SHANK3 (Q9BYB0)
A65P (p.Ala65Pro) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A65P (p.Ala65Pro) variant details
- p.Ala65Pro
- gnomAD 22-50675174-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.27
- CADD 23.80
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available