C105Y (p.Cys105Tyr) variant of XPA (P23025)
C105Y (p.Cys105Tyr) in XPA (P23025) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
C105Y (p.Cys105Tyr) variant details
- p.Cys105Tyr
- rs1286103706
- ClinGen CA374187847
- ClinVar RCV002767368
- Ensembl rs1286103706
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.92
- CADD 25.90
- PolyPhen-2 0.92
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)