S13S (p.Ser13Ser) variant of DES (Desmin)
S13S (p.Ser13Ser) in DES (Desmin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S13S (p.Ser13Ser) variant details
- p.Ser13Ser
- gnomAD 2-219418501-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.323
- CADD 15.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available