T48S (p.Thr48Ser) variant of ALPL (P05186)
T48S (p.Thr48Ser) 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 0.46 / 1. The record also includes population frequency data and structural context.
T48S (p.Thr48Ser) variant details
- p.Thr48Ser
- TOPMed rs1430855435
- gnomAD rs1430855435
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.31
- AlphaMissense 0.08
- MetaLR 0.77
- MetaSVM 0.59
- CADD 17.70
- PolyPhen-2 0.03
- 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