S30Q (p.Ser30Gln) variant of MMAA (Q8IVH4)
S30Q (p.Ser30Gln) 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.
S30Q (p.Ser30Gln) variant details
- p.Ser30Gln
- rs765782136
- gnomAD 4-145639225-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 20.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available