P14A (p.Pro14Ala) variant of SHANK3 (Q9BYB0)
P14A (p.Pro14Ala) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P14A (p.Pro14Ala) variant details
- p.Pro14Ala
- gnomAD 22-50674651-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.05
- CADD 17.10
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available