K72R (p.Lys72Arg) variant of MMAA (Q8IVH4)
K72R (p.Lys72Arg) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
K72R (p.Lys72Arg) variant details
- p.Lys72Arg
- TOPMed rs1385248717
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- ESM-1b 0.00
- AlphaMissense 0.07
- Structural context available