K48E (p.Lys48Glu) variant of SHANK3 (Q9BYB0)
K48E (p.Lys48Glu) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K48E (p.Lys48Glu) variant details
- p.Lys48Glu
- gnomAD 22-50675090-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.20
- CADD 29.70
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available