E2496D (p.Glu2496Asp) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
E2496D (p.Glu2496Asp) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Lymphatic malformation 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
E2496D (p.Glu2496Asp) variant details
- p.Glu2496Asp
- NCI-TCGA TCGA novel
- Likely pathogenic
- Lymphatic malformation 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Lymphatic malformation 6)
- UniProt: Likely pathogenic (in DHS1)
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available