S17S (p.Ser17Ser) variant of LMNA (Prelamin-A/C)
S17S (p.Ser17Ser) in LMNA (Prelamin-A/C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S17S (p.Ser17Ser) variant details
- p.Ser17Ser
- rs11549668
- gnomAD 1-156114969-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.361
- CADD 14.30
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- 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)