R255Q (p.Arg255Gln) variant of SMC1A (Q14683)
R255Q (p.Arg255Gln) 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.
R255Q (p.Arg255Gln) variant details
- p.Arg255Gln
- rs782763816
- gnomAD X-53380704-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 6.59
- SIFT 0.10
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available