T33I (p.Thr33Ile) variant of PCCB (P05166)
T33I (p.Thr33Ile) in PCCB (P05166) is a missense change. Clinical records from ClinVar 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 0.22 / 1. The record also includes population frequency data and structural context.
T33I (p.Thr33Ile) variant details
- p.Thr33Ile
- ExAC rs767133576
- TOPMed rs767133576
- gnomAD rs767133576
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 5.50
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available