I51M (p.Ile51Met) variant of MMADHC (Q9H3L0)
I51M (p.Ile51Met) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
I51M (p.Ile51Met) variant details
- p.Ile51Met
- Ensembl rs1682802665
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.24
- CADD 18.60
- PolyPhen-2 0.02
- SIFT 0.16
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available