P34S (p.Pro34Ser) variant of ACAD9 (Q9H845)
P34S (p.Pro34Ser) in ACAD9 (Q9H845) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P34S (p.Pro34Ser) variant details
- p.Pro34Ser
- rs376651813
- ClinGen CA2601021
- ClinVar RCV002654636
- ClinVar RCV004072028
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.23
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- 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)