S46S (p.Ser46Ser) variant of MMAA (Q8IVH4)
S46S (p.Ser46Ser) in MMAA (Q8IVH4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S46S (p.Ser46Ser) variant details
- p.Ser46Ser
- rs34702224
- gnomAD 4-145639277-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.2
- CADD 3.49
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.1)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)