G51D (p.Gly51Asp) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
G51D (p.Gly51Asp) 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 0.22 / 1. The record also includes population frequency data and structural context.
G51D (p.Gly51Asp) variant details
- p.Gly51Asp
- gnomAD rs1478741696
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.20
- MetaSVM -0.81
- CADD 15.60
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available