P67T (p.Pro67Thr) variant of MMADHC (Q9H3L0)
P67T (p.Pro67Thr) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
P67T (p.Pro67Thr) variant details
- p.Pro67Thr
- TOPMed rs1682767125
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.91
- CADD 26.90
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available