Q68P (p.Gln68Pro) variant of MMADHC (Q9H3L0)
Q68P (p.Gln68Pro) in MMADHC (Q9H3L0) 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.
Q68P (p.Gln68Pro) variant details
- p.Gln68Pro
- gnomAD rs1257043449
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.84
- CADD 23.40
- PolyPhen-2 0.32
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available