K64S (p.Lys64Ser) variant of MMACHC (Q9Y4U1)
K64S (p.Lys64Ser) in MMACHC (Q9Y4U1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
K64S (p.Lys64Ser) variant details
- p.Lys64Ser
- rs1205537581
- gnomAD 1-45507463-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.49
- CADD 28.30
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available