S31S (p.Ser31Ser) variant of DES (Desmin)
S31S (p.Ser31Ser) in DES (Desmin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S31S (p.Ser31Ser) variant details
- p.Ser31Ser
- rs2017800
- gnomAD 2-219418555-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.444
- AlphaMissense 0.50
- MetaLR 0.41
- MetaSVM -0.23
- CADD 16.00
- PolyPhen-2 0.19
- SIFT 0.26
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)