R255L (p.Arg255Leu) variant of SMC1A (Q14683)
R255L (p.Arg255Leu) in SMC1A (Q14683) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R255L (p.Arg255Leu) variant details
- p.Arg255Leu
- ExAC rs782606119
- TOPMed rs782606119
- gnomAD rs782606119
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.23
- MetaLR 0.23
- MetaSVM -0.74
- CADD 21.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available