S17N (p.Ser17Asn) variant of LMNA (Prelamin-A/C)
S17N (p.Ser17Asn) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S17N (p.Ser17Asn) variant details
- p.Ser17Asn
- TOPMed rs1649702619
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available