C6F (p.Cys6Phe) variant of MMADHC (Q9H3L0)
C6F (p.Cys6Phe) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
C6F (p.Cys6Phe) variant details
- p.Cys6Phe
- TOPMed rs1159486541
- gnomAD rs1159486541
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.77
- CADD 22.80
- PolyPhen-2 0.13
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available