K11R (p.Lys11Arg) variant of ERCC3 (P19447)
K11R (p.Lys11Arg) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K11R (p.Lys11Arg) variant details
- p.Lys11Arg
- rs199934696
- ClinGen CA1858638
- cosmic curated COSV53430
- ClinVar RCV001051064
- Uncertain significance
- Inborn genetic diseases; not provided; Xeroderma pigmentosum group B
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.37
- MetaLR 0.29
- MetaSVM -0.60
- CADD 23.20
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Xeroderma pigmentosum gro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- 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)