P25T (p.Pro25Thr) variant of MMACHC (Q9Y4U1)
P25T (p.Pro25Thr) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
P25T (p.Pro25Thr) variant details
- p.Pro25Thr
- TOPMed rs1325442638
- gnomAD rs1325442638
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.83
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available