I12I (p.Ile12Ile) variant of MMACHC (Q9Y4U1)
I12I (p.Ile12Ile) in MMACHC (Q9Y4U1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
I12I (p.Ile12Ile) variant details
- p.Ile12Ile
- gnomAD 1-45500368-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 14.10
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available