K2070Q (p.Lys2070Gln) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
K2070Q (p.Lys2070Gln) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, 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 0.58 / 1. The record also includes structural context.
K2070Q (p.Lys2070Gln) variant details
- p.Lys2070Gln
- rs1567659736
- ClinGen CA397084718
- ClinVar RCV000735789
- Ensembl rs1567659736
- Likely pathogenic
- Lymphatic malformation 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.20
- MetaSVM -0.79
- PolyPhen-2 0.64
- SIFT 0.00
- ClinVar: Likely pathogenic (Lymphatic malformation 6)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available