H230R (p.His230Arg) variant of SMC1A (Q14683)
H230R (p.His230Arg) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
H230R (p.His230Arg) variant details
- p.His230Arg
- ExAC rs782002189
- gnomAD rs782002189
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.60
- MetaLR 0.46
- MetaSVM 0.07
- CADD 24.70
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available