L52H (p.Leu52His) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)

Name: PIEZO1 L52H (p.Leu52His) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-05-15
License: https://catvariant.com/terms-of-use

L52H (p.Leu52His) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.

L52H (p.Leu52His) variant details

p.Leu52His
Ensembl rs2142863090
Missense
Variant Prioritization Score for Impact Estimate 0.257
ESM-1b 0.00
AlphaMissense 0.20
Structural context available