P14L (p.Pro14Leu) variant of SHANK3 (Q9BYB0)
P14L (p.Pro14Leu) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- gnomAD 22-50674652-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.05
- CADD 21.20
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available