S18R (p.Ser18Arg) variant of XPC (Q01831)
S18R (p.Ser18Arg) in XPC (Q01831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Xeroderma pigmentosum, group C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S18R (p.Ser18Arg) variant details
- p.Ser18Arg
- rs587778757
- ClinGen CA162850
- ClinVar RCV000122322
- ClinVar RCV000671614
- Uncertain significance
- Xeroderma pigmentosum, group C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0861
- REVEL 0.06
- CADD 9.80
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Xeroderma pigmentosum, group C)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)