D14D (p.Asp14Asp) variant of MMACHC (Q9Y4U1)
D14D (p.Asp14Asp) in MMACHC (Q9Y4U1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
D14D (p.Asp14Asp) variant details
- p.Asp14Asp
- rs141562335
- gnomAD 1-45500374-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 14.20
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Literature evidence available