S65Y (p.Ser65Tyr) variant of ALPL (P05186)
S65Y (p.Ser65Tyr) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
S65Y (p.Ser65Tyr) variant details
- p.Ser65Tyr
- rs1644478359
- ClinGen CA338877872
- ClinVar RCV001815061
- TOPMed rs1644478359
- Conflicting interpretations
- Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- AlphaMissense 0.95
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.55
- ClinVar: Conflicting classifications of pathogenicity (Hypophosphatasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)