H40Y (p.His40Tyr) variant of MMACHC (Q9Y4U1)
H40Y (p.His40Tyr) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
H40Y (p.His40Tyr) variant details
- p.His40Tyr
- TOPMed rs933447358
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.66
- CADD 22.40
- PolyPhen-2 0.42
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available