I88V (p.Ile88Val) variant of XPC (Q01831)
I88V (p.Ile88Val) 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 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
I88V (p.Ile88Val) variant details
- p.Ile88Val
- rs200197232
- ClinGen CA2267768
- ClinVar RCV000296019
- 1000Genomes rs200197232
- Uncertain significance
- Xeroderma pigmentosum, group C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0736
- REVEL 0.07
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Xeroderma pigmentosum, group C)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)