L99F (p.Leu99Phe) variant of MMADHC (Q9H3L0)
L99F (p.Leu99Phe) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
L99F (p.Leu99Phe) variant details
- p.Leu99Phe
- Ensembl rs1558847878
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.50
- CADD 17.50
- PolyPhen-2 0.79
- SIFT 0.33
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available