P13L (p.Pro13Leu) variant of MSI1 (O43347)
P13L (p.Pro13Leu) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- TOPMed rs1876223690
- gnomAD rs1876223690
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.06
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available