R103G (p.Arg103Gly) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R103G (p.Arg103Gly) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R103G (p.Arg103Gly) variant details
- p.Arg103Gly
- rs759026521
- ClinGen CA397124083
- ClinVar RCV003722035
- ExAC rs759026521
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.19
- ESM-1b 0.09
- AlphaMissense 0.13
- MetaLR 0.26
- MetaSVM -0.78
- CADD 11.20
- ClinVar: Likely benign (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available