L48V (p.Leu48Val) variant of MMACHC (Q9Y4U1)
L48V (p.Leu48Val) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L48V (p.Leu48Val) variant details
- p.Leu48Val
- gnomAD 1-45507416-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.81
- CADD 23.20
- PolyPhen-2 0.75
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available