L36R (p.Leu36Arg) variant of XPA (P23025)
L36R (p.Leu36Arg) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L36R (p.Leu36Arg) variant details
- p.Leu36Arg
- rs1829079091
- ClinGen CA374188466
- ClinVar RCV004485580
- TOPMed rs1829079091
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.45
- CADD 32.00
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)