G25E (p.Gly25Glu) variant of CA2 (Carbonic anhydrase 2)
G25E (p.Gly25Glu) 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 0.82 / 1. The record also includes structural context.
G25E (p.Gly25Glu) variant details
- p.Gly25Glu
- rs1811610973
- ClinGen CA371424383
- ClinVar RCV001163654
- Ensembl rs1811610973
- Uncertain significance
- Osteopetrosis with renal tubular acidosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- AlphaMissense 0.81
- MetaLR 0.90
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.53
- ClinVar: Uncertain significance (Osteopetrosis with renal tubular acidosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available