K81E (p.Lys81Glu) variant of MMAA (Q8IVH4)
K81E (p.Lys81Glu) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
K81E (p.Lys81Glu) variant details
- p.Lys81Glu
- TOPMed rs1289736242
- gnomAD rs1289736242
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available