K44R (p.Lys44Arg) variant of ERCC3 (P19447)
K44R (p.Lys44Arg) in ERCC3 (P19447) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Xeroderma pigmentosum group B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
K44R (p.Lys44Arg) variant details
- p.Lys44Arg
- rs771345526
- ClinGen CA1858615
- ClinVar RCV001133123
- ClinVar RCV002556852
- Uncertain significance
- Inborn genetic diseases; not provided; Xeroderma pigmentosum group B
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Xeroderma pigmentosum gro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- 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)