I12L (p.Ile12Leu) variant of MMACHC (Q9Y4U1)
I12L (p.Ile12Leu) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
I12L (p.Ile12Leu) variant details
- p.Ile12Leu
- ExAC rs773695165
- gnomAD rs773695165
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.19
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available