K53R (p.Lys53Arg) variant of MMAA (Q8IVH4)
K53R (p.Lys53Arg) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
K53R (p.Lys53Arg) variant details
- p.Lys53Arg
- gnomAD 4-145639297-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available