P56T (p.Pro56Thr) variant of MMACHC (Q9Y4U1)
P56T (p.Pro56Thr) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
P56T (p.Pro56Thr) variant details
- p.Pro56Thr
- Ensembl rs1643643880
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.97
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available