P14H (p.Pro14His) variant of SHANK3 (Q9BYB0)
P14H (p.Pro14His) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P14H (p.Pro14His) variant details
- p.Pro14His
- gnomAD 22-50674652-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.06
- CADD 24.50
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available