S17G (p.Ser17Gly) variant of LMNA (Prelamin-A/C)
S17G (p.Ser17Gly) in LMNA (Prelamin-A/C) is a missense 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.
S17G (p.Ser17Gly) variant details
- p.Ser17Gly
- gnomAD 1-156114967-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.25
- MetaSVM -0.65
- CADD 21.00
- Population evidence available
- Structural context available
- Literature evidence available