K29E (p.Lys29Glu) variant of MMADHC (Q9H3L0)
K29E (p.Lys29Glu) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
K29E (p.Lys29Glu) variant details
- p.Lys29Glu
- ExAC rs762537066
- gnomAD rs762537066
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.36
- CADD 23.80
- PolyPhen-2 0.11
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available