R353Q (p.Arg353Gln) variant of SMC1A (Q14683)
R353Q (p.Arg353Gln) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R353Q (p.Arg353Gln) variant details
- p.Arg353Gln
- cosmic curated COSV10737
- 1000Genomes rs2146604742
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.09
- MetaSVM -0.93
- CADD 18.00
- Most common in the 1KG:LWK population (allele frequency 0.0076)
- Structural context available