T47N (p.Thr47Asn) variant of MMACHC (Q9Y4U1)
T47N (p.Thr47Asn) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Cobalamin C disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
T47N (p.Thr47Asn) variant details
- p.Thr47Asn
- rs200920274
- ClinGen CA827648
- ClinVar RCV002633320
- ClinVar RCV003269512
- Uncertain significance
- Inborn genetic diseases; Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.83
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Cobalamin C disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00013)
- 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)