D5Y (p.Asp5Tyr) variant of XPA (P23025)
D5Y (p.Asp5Tyr) in XPA (P23025) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Xeroderma pigmentosum group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
D5Y (p.Asp5Tyr) variant details
- p.Asp5Tyr
- rs574504791
- ClinGen CA5148942
- ClinVar RCV001168275
- ClinVar RCV002558662
- Uncertain significance
- not provided; Xeroderma pigmentosum group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.09
- CADD 21.20
- PolyPhen-2 0.10
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Xeroderma pigmentosum group A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)