G8R (p.Gly8Arg) variant of PIEZO2 (Q9H5I5)
G8R (p.Gly8Arg) in PIEZO2 (Q9H5I5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Marden-Walker syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G8R (p.Gly8Arg) variant details
- p.Gly8Arg
- gnomAD rs1372741057
- Uncertain significance
- Marden-Walker syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.97
- MetaLR 0.33
- MetaSVM -0.42
- CADD 28.50
- ClinVar: Uncertain significance (Marden-Walker syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available