F20L (p.Phe20Leu) variant of CA2 (Carbonic anhydrase 2)
F20L (p.Phe20Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
F20L (p.Phe20Leu) variant details
- p.Phe20Leu
- rs1173459888
- ClinGen CA371424282
- ClinVar RCV003198056
- TOPMed rs1173459888
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.43
- MetaLR 0.26
- MetaSVM -0.58
- CADD 23.50
- PolyPhen-2 0.19
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- 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)