K240E (p.Lys240Glu) variant of SMC1A (Q14683)
K240E (p.Lys240Glu) 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.
K240E (p.Lys240Glu) variant details
- p.Lys240Glu
- ExAC rs781938358
- gnomAD rs781938358
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.09
- MetaSVM -0.91
- CADD 17.40
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available