K81R (p.Lys81Arg) variant of MMAA (Q8IVH4)
K81R (p.Lys81Arg) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
K81R (p.Lys81Arg) variant details
- p.Lys81Arg
- 1000Genomes rs532407633
- ExAC rs532407633
- TOPMed rs532407633
- gnomAD rs532407633
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available