R56T (p.Arg56Thr) variant of XPC (Q01831)
R56T (p.Arg56Thr) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R56T (p.Arg56Thr) variant details
- p.Arg56Thr
- TOPMed rs1410611847
- gnomAD rs1410611847
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.26
- CADD 22.40
- PolyPhen-2 0.62
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available