S30S (p.Ser30Ser) variant of MCCC2 (Q9HCC0)
S30S (p.Ser30Ser) in MCCC2 (Q9HCC0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S30S (p.Ser30Ser) variant details
- p.Ser30Ser
- rs559384926
- gnomAD 5-71587515-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.145
- CADD 9.09
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available