K294N (p.Lys294Asn) variant of SMC1A (Q14683)
K294N (p.Lys294Asn) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
K294N (p.Lys294Asn) variant details
- p.Lys294Asn
- TOPMed rs1197410298
- gnomAD rs1197410298
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.55
- MetaSVM 0.10
- CADD 23.80
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available