R255K (p.Arg255Lys) variant of SMC1A (Q14683)
R255K (p.Arg255Lys) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R255K (p.Arg255Lys) variant details
- p.Arg255Lys
- rs138015913
- gnomAD X-53380668-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 10.60
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available