Y39C (p.Tyr39Cys) variant of ALPL (P05186)
Y39C (p.Tyr39Cys) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
Y39C (p.Tyr39Cys) variant details
- p.Tyr39Cys
- rs777235122
- ClinGen CA666399
- ClinVar RCV003141340
- ExAC rs777235122
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- MetaLR 0.78
- MetaSVM 0.62
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available