A9S (p.Ala9Ser) variant of ALPL (P05186)
A9S (p.Ala9Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A9S (p.Ala9Ser) variant details
- p.Ala9Ser
- rs759760207
- ClinGen CA666359
- ClinVar RCV003349847
- ExAC rs759760207
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.28
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.49
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- 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)