M56T (p.Met56Thr) variant of ALPL (P05186)
M56T (p.Met56Thr) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
M56T (p.Met56Thr) variant details
- p.Met56Thr
- rs1288112235
- ClinGen CA338877703
- ClinVar RCV003659443
- ClinVar RCV004985459
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- AlphaMissense 0.21
- MetaLR 0.85
- MetaSVM 0.81
- SIFT 0.00
- MutPred 0.70
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)