K44E (p.Lys44Glu) variant of XPC (Q01831)
K44E (p.Lys44Glu) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
K44E (p.Lys44Glu) variant details
- p.Lys44Glu
- gnomAD rs1477400478
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.03
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available