N28S (p.Asn28Ser) variant of ACADM (P11310)
N28S (p.Asn28Ser) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Inborn genetic diseases; Medium-chain acyl-coenzyme A dehydrogena. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
N28S (p.Asn28Ser) variant details
- p.Asn28Ser
- rs778035007
- ClinGen CA912937
- ClinVar RCV003610788
- ClinVar RCV004783098
- Uncertain significance
- not specified; Inborn genetic diseases; Medium-chain acyl-coenzyme A dehydrogena
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.17
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.83
- ClinVar: Uncertain significance (not specified; Inborn genetic diseases; Medium-chain acyl-coenzy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)