V25F (p.Val25Phe) variant of MMADHC (Q9H3L0)
V25F (p.Val25Phe) 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; Methylmalonic aciduria and homo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
V25F (p.Val25Phe) variant details
- p.Val25Phe
- rs549522925
- ClinGen CA312747
- cosmic curated COSV57573
- ClinVar RCV001035983
- Uncertain significance
- Disorders of Intracellular Cobalamin Metabolism; Methylmalonic aciduria and homo
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.75
- CADD 24.80
- PolyPhen-2 0.83
- SIFT 0.01
- ClinVar: Uncertain significance (Disorders of Intracellular Cobalamin Metabolism; Methylmalonic a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)