Q60H (p.Gln60His) variant of SMC3 (Q9UQE7)
Q60H (p.Gln60His) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q60H (p.Gln60His) variant details
- p.Gln60His
- Ensembl rs1860932595
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.30
- ESM-1b 1.00
- AlphaMissense 0.79
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available