E113K (p.Glu113Lys) variant of CHM (P24386)
E113K (p.Glu113Lys) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E113K (p.Glu113Lys) variant details
- p.Glu113Lys
- rs754548037
- ClinGen CA10465590
- ClinVar RCV002585065
- ClinVar RCV004614361
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.29
- MetaLR 0.20
- MetaSVM -0.64
- CADD 22.70
- PolyPhen-2 0.34
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:STU population (allele frequency 0.0074)
- 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)