Y90H (p.Tyr90His) variant of PAX6 (Paired box protein Pax-6)
Y90H (p.Tyr90His) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes population frequency data and structural context.
Y90H (p.Tyr90His) variant details
- p.Tyr90His
- rs748252607
- ExAC rs748252607
- gnomAD rs748252607
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.93
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available