V130F (p.Val130Phe) variant of MMADHC (Q9H3L0)
V130F (p.Val130Phe) in MMADHC (Q9H3L0) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Isolated methylmalonic aciduria cblD type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
V130F (p.Val130Phe) variant details
- p.Val130Phe
- NCI-TCGA TCGA novel
- TOPMed rs1682721277
- gnomAD rs1682721277
- Uncertain significance
- Isolated methylmalonic aciduria cblD type
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.27
- CADD 17.00
- PolyPhen-2 0.10
- SIFT 0.09
- ClinVar: Uncertain significance (Isolated methylmalonic aciduria cblD type)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available