H104Y (p.His104Tyr) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
H104Y (p.His104Tyr) 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 0.25 / 1. The record also includes population frequency data and structural context.
H104Y (p.His104Tyr) variant details
- p.His104Tyr
- gnomAD rs1255165271
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.09
- MetaSVM -1.02
- CADD 18.50
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available