V23F (p.Val23Phe) variant of MMACHC (Q9Y4U1)
V23F (p.Val23Phe) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Disorders of Intracellular Cobalamin Metabolism; Inborn genetic di. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
V23F (p.Val23Phe) variant details
- p.Val23Phe
- rs201898615
- ClinGen CA827615
- ClinVar RCV000308210
- ClinVar RCV001700037
- Uncertain significance
- not provided; Disorders of Intracellular Cobalamin Metabolism; Inborn genetic di
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.79
- CADD 23.00
- PolyPhen-2 0.38
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; Disorders of Intracellular Cobalamin Metabolism; I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- 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)