S70G (p.Ser70Gly) variant of WDR45 (Q9Y484)
S70G (p.Ser70Gly) 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 0.14 / 1. The record also includes population frequency data and structural context.
S70G (p.Ser70Gly) variant details
- p.Ser70Gly
- rs2147817424
- ClinGen CA412949099
- ClinVar RCV001772940
- Ensembl rs2147817424
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.02
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available