T33N (p.Thr33Asn) variant of PCCA (P05165)
T33N (p.Thr33Asn) in PCCA (P05165) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T33N (p.Thr33Asn) variant details
- p.Thr33Asn
- rs1486710734
- ClinGen CA388692770
- ClinVar RCV003204041
- TOPMed rs1486710734
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 21.20
- PolyPhen-2 0.08
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases)
- 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)