E38K (p.Glu38Lys) variant of PCSK1 (Neuroendocrine convertase 1)
E38K (p.Glu38Lys) in PCSK1 (Neuroendocrine convertase 1) 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. 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.
E38K (p.Glu38Lys) variant details
- p.Glu38Lys
- rs1049269132
- ClinGen CA122939077
- ClinVar RCV001879710
- ClinVar RCV005465556
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.17
- MetaLR 0.07
- MetaSVM -1.08
- CADD 22.70
- PolyPhen-2 0.06
- SIFT 0.21
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- 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)