S17R (p.Ser17Arg) variant of LMNA (Prelamin-A/C)
S17R (p.Ser17Arg) in LMNA (Prelamin-A/C) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S17R (p.Ser17Arg) variant details
- p.Ser17Arg
- 1000Genomes rs11549668
- ESP rs11549668
- ExAC rs11549668
- TOPMed rs11549668
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.69
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.01
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available