Q2P (p.Gln2Pro) variant of SHANK3 (Q9BYB0)
Q2P (p.Gln2Pro) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q2P (p.Gln2Pro) variant details
- p.Gln2Pro
- gnomAD 22-50674700-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.08
- CADD 23.70
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available