P85S (p.Pro85Ser) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
P85S (p.Pro85Ser) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P85S (p.Pro85Ser) variant details
- p.Pro85Ser
- rs775050594
- ClinGen CA286442449
- ClinVar RCV003488221
- ExAC rs775050594
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.23
- MetaLR 0.41
- MetaSVM -0.34
- CADD 25.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available