P36L (p.Pro36Leu) variant of MMACHC (Q9Y4U1)
P36L (p.Pro36Leu) in MMACHC (Q9Y4U1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- ExAC rs770139367
- TOPMed rs770139367
- gnomAD rs770139367
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.55
- CADD 23.90
- PolyPhen-2 0.72
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available