P31R (p.Pro31Arg) variant of SHANK3 (Q9BYB0)
P31R (p.Pro31Arg) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P31R (p.Pro31Arg) variant details
- p.Pro31Arg
- gnomAD 22-50675076-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.14
- CADD 26.20
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available