P85A (p.Pro85Ala) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
P85A (p.Pro85Ala) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, 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 0.50 / 1. The record also includes population frequency data and structural context.
P85A (p.Pro85Ala) variant details
- p.Pro85Ala
- ExAC rs775050594
- TOPMed rs775050594
- gnomAD rs775050594
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.54
- ESM-1b 0.11
- AlphaMissense 0.20
- MetaLR 0.41
- MetaSVM -0.29
- CADD 23.30
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available