P72T (p.Pro72Thr) variant of WDR45 (Q9Y484)
P72T (p.Pro72Thr) in WDR45 (Q9Y484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
P72T (p.Pro72Thr) variant details
- p.Pro72Thr
- ExAC rs782819490
- TOPMed rs782819490
- gnomAD rs782819490
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.54
- CADD 24.90
- PolyPhen-2 0.74
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 6.5e-05)
- Structural context available