R88W (p.Arg88Trp) variant of SMC3 (Q9UQE7)
R88W (p.Arg88Trp) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R88W (p.Arg88Trp) variant details
- p.Arg88Trp
- gnomAD 10-110577484-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available