R18K (p.Arg18Lys) variant of MMAA (Q8IVH4)
R18K (p.Arg18Lys) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R18K (p.Arg18Lys) variant details
- p.Arg18Lys
- ExAC rs746718277
- gnomAD rs746718277
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available