Q2H (p.Gln2His) variant of PAX6 (Paired box protein Pax-6)
Q2H (p.Gln2His) in PAX6 (Paired box protein Pax-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q2H (p.Gln2His) variant details
- p.Gln2His
- cosmic curated COSV99570
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- CADD 25.80
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score 0.0045