L15V (p.Leu15Val) variant of MMADHC (Q9H3L0)
L15V (p.Leu15Val) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L15V (p.Leu15Val) variant details
- p.Leu15Val
- 1000Genomes rs200819691
- ExAC rs200819691
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.26
- CADD 19.30
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available