P17R (p.Pro17Arg) variant of SHANK3 (Q9BYB0)
P17R (p.Pro17Arg) in SHANK3 (Q9BYB0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P17R (p.Pro17Arg) variant details
- p.Pro17Arg
- gnomAD 22-50674685-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.517
- CADD 25.20
- Population evidence available
- Structural context available
- Literature evidence available