S6S (p.Ser6Ser) variant of DES (Desmin)
S6S (p.Ser6Ser) in DES (Desmin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S6S (p.Ser6Ser) variant details
- p.Ser6Ser
- rs199972656
- gnomAD 2-219418480-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.177
- CADD 13.60
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)