Q68H (p.Gln68His) variant of MMACHC (Q9Y4U1)
Q68H (p.Gln68His) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Q68H (p.Gln68His) variant details
- p.Gln68His
- gnomAD 1-45507478-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.26
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available