P25A (p.Pro25Ala) variant of MMACHC (Q9Y4U1)
P25A (p.Pro25Ala) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P25A (p.Pro25Ala) variant details
- p.Pro25Ala
- TOPMed rs1325442638
- gnomAD rs1325442638
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.70
- CADD 25.40
- PolyPhen-2 0.95
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available