Y31H (p.Tyr31His) variant of MMACHC (Q9Y4U1)
Y31H (p.Tyr31His) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
Y31H (p.Tyr31His) variant details
- p.Tyr31His
- gnomAD rs1400192154
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.98
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available