T55S (p.Thr55Ser) variant of CA2 (Carbonic anhydrase 2)
T55S (p.Thr55Ser) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
T55S (p.Thr55Ser) variant details
- p.Thr55Ser
- rs112536089
- ClinGen CA180248611
- ClinVar RCV002012234
- Ensembl rs112536089
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.10
- MetaLR 0.12
- MetaSVM -0.98
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available