S36* (p.Ser36Ter) variant of MMAA (Q8IVH4)
S36* (p.Ser36Ter) in MMAA (Q8IVH4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S36* (p.Ser36Ter) variant details
- p.Ser36Ter
- gnomAD rs1432231626
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.438
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available