F19L (p.Phe19Leu) variant of MMACHC (Q9Y4U1)
F19L (p.Phe19Leu) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
F19L (p.Phe19Leu) variant details
- p.Phe19Leu
- gnomAD 1-45500387-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.28
- MetaLR 0.57
- MetaSVM -0.09
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available