C64S (p.Cys64Ser) variant of PIEZO2 (Q9H5I5)
C64S (p.Cys64Ser) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
C64S (p.Cys64Ser) variant details
- p.Cys64Ser
- 1000Genomes rs574038773
- TOPMed rs574038773
- gnomAD rs574038773
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.50
- MetaLR 0.31
- MetaSVM -0.53
- CADD 23.20
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available