H230Q (p.His230Gln) variant of SMC1A (Q14683)
H230Q (p.His230Gln) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
H230Q (p.His230Gln) variant details
- p.His230Gln
- Ensembl rs972084651
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- ESM-1b 1.00
- AlphaMissense 0.81
- Structural context available