P58L (p.Pro58Leu) variant of SHANK3 (Q9BYB0)
P58L (p.Pro58Leu) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
P58L (p.Pro58Leu) variant details
- p.Pro58Leu
- rs759046926
- gnomAD 22-50675157-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.29
- CADD 27.20
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available