G22R (p.Gly22Arg) variant of SMC1A (Q14683)
G22R (p.Gly22Arg) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar 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 1.00 / 1. The record also includes structural context.
G22R (p.Gly22Arg) variant details
- p.Gly22Arg
- Ensembl rs2075764597
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Structural context available