K48N (p.Lys48Asn) variant of SHANK3 (Q9BYB0)
K48N (p.Lys48Asn) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K48N (p.Lys48Asn) variant details
- p.Lys48Asn
- gnomAD 22-50675050-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.14
- CADD 29.20
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available