K11K (p.Lys11Lys) variant of MMACHC (Q9Y4U1)
K11K (p.Lys11Lys) in MMACHC (Q9Y4U1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K11K (p.Lys11Lys) variant details
- p.Lys11Lys
- rs770446383
- gnomAD 1-45500365-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.325
- CADD 14.60
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available
- Literature evidence available