K48R (p.Lys48Arg) variant of SHANK3 (Q9BYB0)
K48R (p.Lys48Arg) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K48R (p.Lys48Arg) variant details
- p.Lys48Arg
- gnomAD 22-50675049-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.14
- CADD 24.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available