E13V (p.Glu13Val) variant of MMACHC (Q9Y4U1)
E13V (p.Glu13Val) in MMACHC (Q9Y4U1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E13V (p.Glu13Val) variant details
- p.Glu13Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.35
- CADD 25.30
- PolyPhen-2 0.41
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available