M102T (p.Met102Thr) variant of PAX8 (Paired box protein Pax-8)
M102T (p.Met102Thr) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
M102T (p.Met102Thr) variant details
- p.Met102Thr
- gnomAD rs1343942490
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.95
- CADD 25.90
- PolyPhen-2 0.96
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available