M102I (p.Met102Ile) variant of PAX8 (Paired box protein Pax-8)
M102I (p.Met102Ile) in PAX8 (Paired box protein Pax-8) 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 0.69 / 1. The record also includes population frequency data and structural context.
M102I (p.Met102Ile) variant details
- p.Met102Ile
- ExAC rs767169161
- TOPMed rs767169161
- gnomAD rs767169161
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.64
- CADD 23.50
- PolyPhen-2 0.93
- SIFT 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available