F21L (p.Phe21Leu) variant of MMACHC (Q9Y4U1)
F21L (p.Phe21Leu) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
F21L (p.Phe21Leu) variant details
- p.Phe21Leu
- gnomAD 1-45500393-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.77
- MetaLR 0.85
- MetaSVM 0.79
- CADD 25.90
- PolyPhen-2 0.52
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available