S3L (p.Ser3Leu) variant of ALPL (P05186)
S3L (p.Ser3Leu) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S3L (p.Ser3Leu) variant details
- p.Ser3Leu
- gnomAD 1-21560702-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 9.60
- Population evidence available
- Structural context available
- Literature evidence available