Q92P (p.Gln92Pro) variant of CA2 (Carbonic anhydrase 2)
Q92P (p.Gln92Pro) in CA2 (Carbonic anhydrase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Osteopetrosis with renal tubular acidosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
Q92P (p.Gln92Pro) variant details
- p.Gln92Pro
- rs1304160279
- ClinGen CA371428294
- ClinVar RCV001250415
- ClinVar RCV005243492
- Likely pathogenic
- not provided; Osteopetrosis with renal tubular acidosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- AlphaMissense 0.97
- MetaLR 0.90
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Likely pathogenic (not provided; Osteopetrosis with renal tubular acidosis)
- EBI: Pathogenic (in OPTB3)
- UniProt: Pathogenic (in OPTB3)
- Population evidence available
- Structural context available
- Cited in: Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel… (PMID 15300855)
- Cited in: Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis. (PMID 9143915)