C17Y (p.Cys17Tyr) variant of MMACHC (Q9Y4U1)
C17Y (p.Cys17Tyr) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
C17Y (p.Cys17Tyr) variant details
- p.Cys17Tyr
- ExAC rs751539831
- gnomAD rs751539831
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.48
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.95
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available