K172R (p.Lys172Arg) variant of SMC1A (Q14683)
K172R (p.Lys172Arg) 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.
K172R (p.Lys172Arg) variant details
- p.Lys172Arg
- gnomAD rs1556890827
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.17
- MetaLR 0.23
- MetaSVM -0.75
- CADD 23.80
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available