E14K (p.Glu14Lys) variant of CA2 (Carbonic anhydrase 2)
E14K (p.Glu14Lys) in CA2 (Carbonic anhydrase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Osteopetrosis with renal tubular acidosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- rs758659684
- ClinGen CA10631645
- ClinVar RCV000369624
- ClinVar RCV003168571
- Uncertain significance
- Inborn genetic diseases; Osteopetrosis with renal tubular acidosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.10
- MetaLR 0.22
- MetaSVM -0.89
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases; Osteopetrosis with renal tubular acidos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)