R13L (p.Arg13Leu) variant of WDR45 (Q9Y484)
R13L (p.Arg13Leu) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes structural context.
R13L (p.Arg13Leu) variant details
- p.Arg13Leu
- rs201177026
- ClinGen CA412949513
- ClinVar RCV003238066
- 1000Genomes rs201177026
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- AlphaMissense 0.35
- MetaLR 0.17
- MetaSVM -0.88
- PolyPhen-2 0.00
- SIFT 0.06
- EVE 0.48
- ClinVar: Uncertain significance (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available