L67L (p.Leu67Leu) variant of MMACHC (Q9Y4U1)
L67L (p.Leu67Leu) in MMACHC (Q9Y4U1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L67L (p.Leu67Leu) variant details
- p.Leu67Leu
- rs1272042617
- gnomAD 1-45507473-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 10.70
- Population evidence available
- Structural context available
- Literature evidence available