E113Q (p.Glu113Gln) variant of MMADHC (Q9H3L0)
E113Q (p.Glu113Gln) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E113Q (p.Glu113Gln) variant details
- p.Glu113Gln
- gnomAD rs1682763414
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.29
- CADD 20.90
- PolyPhen-2 0.06
- SIFT 0.36
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available