H78Y (p.His78Tyr) variant of ALPL (P05186)
H78Y (p.His78Tyr) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
H78Y (p.His78Tyr) variant details
- p.His78Tyr
- rs1279759337
- ClinGen CA338878005
- ClinVar RCV002996682
- gnomAD rs1279759337
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.38
- CADD 23.30
- PolyPhen-2 0.37
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available