Q2K (p.Gln2Lys) variant of SHANK3 (Q9BYB0)
Q2K (p.Gln2Lys) 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.
Q2K (p.Gln2Lys) variant details
- p.Gln2Lys
- gnomAD 22-50674696-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.04
- CADD 18.20
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available