A86T (p.Ala86Thr) variant of PIEZO2 (Q9H5I5)
A86T (p.Ala86Thr) in PIEZO2 (Q9H5I5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A86T (p.Ala86Thr) variant details
- p.Ala86Thr
- ExAC rs753345300
- gnomAD rs753345300
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.25
- MetaSVM -0.78
- CADD 24.10
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available