H55R (p.His55Arg) variant of SMC3 (Q9UQE7)
H55R (p.His55Arg) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
H55R (p.His55Arg) variant details
- p.His55Arg
- gnomAD rs1159760043
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.91
- CADD 26.00
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available