H27N (p.His27Asn) variant of SMC3 (Q9UQE7)
H27N (p.His27Asn) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
H27N (p.His27Asn) variant details
- p.His27Asn
- gnomAD 10-110569001-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.61
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available