S17A (p.Ser17Ala) variant of LMNA (Prelamin-A/C)
S17A (p.Ser17Ala) in LMNA (Prelamin-A/C) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S17A (p.Ser17Ala) variant details
- p.Ser17Ala
- rs794726921
- gnomAD 1-156114964-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 25.80
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Literature evidence available