S70I (p.Ser70Ile) variant of WDR45 (Q9Y484)
S70I (p.Ser70Ile) in WDR45 (Q9Y484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S70I (p.Ser70Ile) variant details
- p.Ser70Ile
- Ensembl rs2065045525
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.06
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 0.21
- Population evidence available
- Structural context available