L5P (p.Leu5Pro) variant of MMADHC (Q9H3L0)
L5P (p.Leu5Pro) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
L5P (p.Leu5Pro) variant details
- p.Leu5Pro
- gnomAD rs1457237939
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.95
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available