P25L (p.Pro25Leu) variant of MMACHC (Q9Y4U1)
P25L (p.Pro25Leu) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- ExAC rs777332324
- gnomAD rs777332324
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.86
- CADD 25.30
- PolyPhen-2 0.84
- SIFT 0.06
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available