L53F (p.Leu53Phe) variant of MMACHC (Q9Y4U1)
L53F (p.Leu53Phe) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of MMACHC-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L53F (p.Leu53Phe) variant details
- p.Leu53Phe
- rs201507059
- ClinGen CA827653
- ClinVar RCV003417085
- 1000Genomes rs201507059
- Uncertain significance
- MMACHC-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.76
- CADD 24.30
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Uncertain significance (MMACHC-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available