K106R (p.Lys106Arg) variant of SMC1A (Q14683)
K106R (p.Lys106Arg) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
K106R (p.Lys106Arg) variant details
- p.Lys106Arg
- ExAC rs782607829
- gnomAD rs782607829
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.02
- MetaSVM -1.05
- CADD 16.80
- Most common in the REMAINING population (allele frequency 4.4e-05)
- Structural context available