V6L (p.Val6Leu) variant of PIEZO2 (Q9H5I5)
V6L (p.Val6Leu) in PIEZO2 (Q9H5I5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
V6L (p.Val6Leu) variant details
- p.Val6Leu
- rs1568417565
- ClinGen CA402030468
- ClinVar RCV000785010
- Ensembl rs1568417565
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.29
- MetaLR 0.21
- MetaSVM -0.86
- CADD 24.40
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.6e-06)
- Structural context available