C17R (p.Cys17Arg) variant of MMACHC (Q9Y4U1)
C17R (p.Cys17Arg) 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 0.50 / 1. The record also includes population frequency data and structural context.
C17R (p.Cys17Arg) variant details
- p.Cys17Arg
- rs766500038
- NCI-TCGA Cosmic COSV6898
- ExAC rs766500038
- gnomAD rs766500038
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.50
- CADD 23.00
- PolyPhen-2 0.11
- SIFT 0.47
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available