K62E (p.Lys62Glu) variant of MMAA (Q8IVH4)
K62E (p.Lys62Glu) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
K62E (p.Lys62Glu) variant details
- p.Lys62Glu
- gnomAD rs1167663893
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available