D34E (p.Asp34Glu) variant of CA2 (Carbonic anhydrase 2)
D34E (p.Asp34Glu) 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 Osteopetrosis with renal tubular acidosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
D34E (p.Asp34Glu) variant details
- p.Asp34Glu
- gnomAD rs201063453
- Uncertain significance
- Osteopetrosis with renal tubular acidosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.04
- MetaLR 0.08
- MetaSVM -1.02
- CADD 4.81
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Osteopetrosis with renal tubular acidosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available