Q2R (p.Gln2Arg) variant of SHANK3 (Q9BYB0)
Q2R (p.Gln2Arg) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
Q2R (p.Gln2Arg) variant details
- p.Gln2Arg
- gnomAD 22-50674697-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.05
- CADD 23.60
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available