S30K (p.Ser30Lys) variant of MMAA (Q8IVH4)
S30K (p.Ser30Lys) in MMAA (Q8IVH4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S30K (p.Ser30Lys) variant details
- p.Ser30Lys
- gnomAD 4-145639225-ACT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 20.60
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Literature evidence available