R329L (p.Arg329Leu) variant of SMC1A (Q14683)
R329L (p.Arg329Leu) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
R329L (p.Arg329Leu) variant details
- p.Arg329Leu
- rs782449052
- ClinGen CA413257570
- ClinVar RCV001771335
- ExAC rs782449052
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.37
- MetaSVM -0.34
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available