R89C (p.Arg89Cys) variant of PIEZO2 (Q9H5I5)
R89C (p.Arg89Cys) in PIEZO2 (Q9H5I5) 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 0.35 / 1. The record also includes population frequency data and structural context.
R89C (p.Arg89Cys) variant details
- p.Arg89Cys
- rs557549695
- ClinGen CA296599931
- cosmic curated COSV10964
- ClinVar RCV002593160
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.19
- MetaSVM -0.86
- CADD 24.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available