S67N (p.Ser67Asn) variant of PIEZO2 (Q9H5I5)
S67N (p.Ser67Asn) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S67N (p.Ser67Asn) variant details
- p.Ser67Asn
- TOPMed rs1014032818
- gnomAD rs1014032818
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.60
- MetaSVM 0.16
- CADD 25.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available