N85S (p.Asn85Ser) variant of MMADHC (Q9H3L0)
N85S (p.Asn85Ser) in MMADHC (Q9H3L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Disorders of Intracellular Cobalamin Metabolism; Inborn genetic diseases; Methyl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
N85S (p.Asn85Ser) variant details
- p.Asn85Ser
- rs767542742
- ClinGen CA1902458
- ClinVar RCV000338725
- ClinVar RCV000392417
- Uncertain significance
- Disorders of Intracellular Cobalamin Metabolism; Inborn genetic diseases; Methyl
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.21
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.56
- ClinVar: Uncertain significance (Disorders of Intracellular Cobalamin Metabolism; Inborn genetic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.024)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)