L43P (p.Leu43Pro) variant of MMACHC (Q9Y4U1)
L43P (p.Leu43Pro) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
L43P (p.Leu43Pro) variant details
- p.Leu43Pro
- gnomAD 1-45507402-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.66
- CADD 24.30
- PolyPhen-2 0.64
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available