P72H (p.Pro72His) variant of WDR45 (Q9Y484)
P72H (p.Pro72His) in WDR45 (Q9Y484) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
P72H (p.Pro72His) variant details
- p.Pro72His
- Ensembl rs11545581
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.53
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available