K11del (p.Lys11del) variant of MMACHC (Q9Y4U1)
K11del (p.Lys11del) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K11del (p.Lys11del) variant details
- rs2149320876
- gnomAD 1-45500360-CAGA-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 22.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available