Q2L (p.Gln2Leu) variant of SHANK3 (Q9BYB0)
Q2L (p.Gln2Leu) 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.
Q2L (p.Gln2Leu) variant details
- p.Gln2Leu
- gnomAD 22-50674697-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.07
- CADD 23.90
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available