F50F (p.Phe50Phe) variant of MMACHC (Q9Y4U1)
F50F (p.Phe50Phe) in MMACHC (Q9Y4U1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
F50F (p.Phe50Phe) variant details
- p.Phe50Phe
- rs760608755
- gnomAD 1-45507424-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.226
- CADD 7.78
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available