H55Y (p.His55Tyr) variant of SMC3 (Q9UQE7)
H55Y (p.His55Tyr) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
H55Y (p.His55Tyr) variant details
- p.His55Tyr
- gnomAD 10-110575368-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.62
- CADD 26.80
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available