P42T (p.Pro42Thr) variant of CA2 (Carbonic anhydrase 2)
P42T (p.Pro42Thr) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P42T (p.Pro42Thr) variant details
- p.Pro42Thr
- rs747884834
- ClinGen CA4796413
- ClinVar RCV002626161
- ClinVar RCV004065855
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.11
- MetaLR 0.22
- MetaSVM -0.79
- CADD 8.81
- PolyPhen-2 0.03
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)