S36S (p.Ser36Ser) variant of MMAA (Q8IVH4)
S36S (p.Ser36Ser) in MMAA (Q8IVH4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S36S (p.Ser36Ser) variant details
- p.Ser36Ser
- rs1727708181
- gnomAD 4-145639247-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.107
- CADD 3.67
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available