G18V (p.Gly18Val) variant of PAX8 (Paired box protein Pax-8)
G18V (p.Gly18Val) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G18V (p.Gly18Val) variant details
- p.Gly18Val
- cosmic curated COSV99639
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.99
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available