R96H (p.Arg96His) variant of SMC1A (Q14683)
R96H (p.Arg96His) in SMC1A (Q14683) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R96H (p.Arg96His) variant details
- p.Arg96His
- rs781817340
- NCI-TCGA Cosmic COSV5912
- cosmic curated COSV59128
- 1000Genomes rs781817340
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.49
- MetaSVM 0.28
- CADD 26.30
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:ACB population (allele frequency 0.0072)
- Structural context available