R86C (p.Arg86Cys) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R86C (p.Arg86Cys) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R86C (p.Arg86Cys) variant details
- p.Arg86Cys
- rs1043456779
- NCI-TCGA Cosmic COSV5633
- TOPMed rs1043456779
- gnomAD rs1043456779
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.12
- MetaSVM -0.96
- CADD 14.50
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available