A76T (p.Ala76Thr) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
A76T (p.Ala76Thr) 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 0.12 / 1. The record also includes population frequency data and structural context.
A76T (p.Ala76Thr) variant details
- p.Ala76Thr
- rs1213053249
- ClinGen CA397125090
- ClinVar RCV003134882
- TOPMed rs1213053249
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.06
- MetaSVM -1.00
- CADD 1.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available