P14S (p.Pro14Ser) variant of SHANK3 (Q9BYB0)
P14S (p.Pro14Ser) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P14S (p.Pro14Ser) variant details
- p.Pro14Ser
- gnomAD 22-50674651-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.03
- CADD 16.20
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available