Q2S (p.Gln2Ser) variant of SHANK3 (Q9BYB0)
Q2S (p.Gln2Ser) in SHANK3 (Q9BYB0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Q2S (p.Gln2Ser) variant details
- p.Gln2Ser
- gnomAD 22-50674694-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.502
- CADD 23.20
- Population evidence available
- Structural context available
- Literature evidence available