K72T (p.Lys72Thr) variant of MMAA (Q8IVH4)
K72T (p.Lys72Thr) in MMAA (Q8IVH4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K72T (p.Lys72Thr) variant details
- p.Lys72Thr
- gnomAD 4-145639351-TAAAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 26.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available