R111K (p.Arg111Lys) variant of LBR (Delta(14)-sterol reductase LBR)
R111K (p.Arg111Lys) in LBR (Delta(14)-sterol reductase LBR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R111K (p.Arg111Lys) variant details
- p.Arg111Lys
- rs766568195
- ClinGen CA1417502
- ClinVar RCV004410315
- ExAC rs766568195
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ACB population (allele frequency 0.038)
- 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)