R275K (p.Arg275Lys) variant of SMC1A (Q14683)
R275K (p.Arg275Lys) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R275K (p.Arg275Lys) variant details
- p.Arg275Lys
- gnomAD X-53380644-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- ESM-1b 1.00
- AlphaMissense 0.76
- CADD 10.10
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available