A86G (p.Ala86Gly) variant of PIEZO2 (Q9H5I5)
A86G (p.Ala86Gly) 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 0.37 / 1. The record also includes population frequency data and structural context.
A86G (p.Ala86Gly) variant details
- p.Ala86Gly
- ExAC rs766288551
- gnomAD rs766288551
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.30
- MetaSVM -0.69
- CADD 24.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available