I51V (p.Ile51Val) variant of MMADHC (Q9H3L0)
I51V (p.Ile51Val) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I51V (p.Ile51Val) variant details
- p.Ile51Val
- ExAC rs781704226
- gnomAD rs781704226
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.30
- CADD 21.70
- PolyPhen-2 0.06
- SIFT 0.42
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available