P106L (p.Pro106Leu) variant of MMADHC (Q9H3L0)
P106L (p.Pro106Leu) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
P106L (p.Pro106Leu) variant details
- p.Pro106Leu
- ExAC rs775838388
- gnomAD rs775838388
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.82
- CADD 24.80
- PolyPhen-2 0.21
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available