P85R (p.Pro85Arg) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
P85R (p.Pro85Arg) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P85R (p.Pro85Arg) variant details
- p.Pro85Arg
- Ensembl rs1905734423
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.46
- ESM-1b 0.73
- AlphaMissense 0.29
- MetaLR 0.41
- MetaSVM -0.35
- CADD 25.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available