L43V (p.Leu43Val) variant of PIEZO2 (Q9H5I5)
L43V (p.Leu43Val) 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 0.28 / 1. The record also includes population frequency data and structural context.
L43V (p.Leu43Val) variant details
- p.Leu43Val
- Ensembl rs949402610
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.44
- MetaLR 0.30
- MetaSVM -0.60
- CADD 23.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available