R92H (p.Arg92His) variant of SMC1A (Q14683)
R92H (p.Arg92His) in SMC1A (Q14683) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R92H (p.Arg92His) variant details
- p.Arg92His
- ExAC rs782788649
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.27
- ESM-1b 0.61
- AlphaMissense 0.14
- MetaLR 0.04
- MetaSVM -1.02
- CADD 23.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available