K24M (p.Lys24Met) variant of XPC (Q01831)
K24M (p.Lys24Met) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
K24M (p.Lys24Met) variant details
- p.Lys24Met
- gnomAD rs1696936510
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.07
- CADD 22.10
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available