R96P (p.Arg96Pro) variant of SMC1A (Q14683)
R96P (p.Arg96Pro) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R96P (p.Arg96Pro) variant details
- p.Arg96Pro
- rs781817340
- ClinGen CA413132052
- ClinVar RCV000731943
- 1000Genomes rs781817340
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.49
- MetaSVM 0.28
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available