K48K (p.Lys48Lys) variant of SHANK3 (Q9BYB0)
K48K (p.Lys48Lys) in SHANK3 (Q9BYB0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
K48K (p.Lys48Lys) variant details
- p.Lys48Lys
- rs1373216249
- gnomAD 22-50675092-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.543
- CADD 15.60
- Population evidence available
- Structural context available
- Literature evidence available