Q16R (p.Gln16Arg) variant of XPA (P23025)
Q16R (p.Gln16Arg) in XPA (P23025) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Xeroderma pigmentosum group A. 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.
Q16R (p.Gln16Arg) variant details
- p.Gln16Arg
- rs756527969
- ClinGen CA5148927
- ClinVar RCV001168274
- ExAC rs756527969
- Uncertain significance
- Xeroderma pigmentosum group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0913
- REVEL 0.04
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (Xeroderma pigmentosum group A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00018)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)