A91S (p.Ala91Ser) variant of PIEZO2 (Q9H5I5)
A91S (p.Ala91Ser) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A91S (p.Ala91Ser) variant details
- p.Ala91Ser
- TOPMed rs1361738068
- gnomAD rs1361738068
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.15
- MetaSVM -0.99
- CADD 14.30
- Most common in the REMAINING population (allele frequency 5.2e-05)
- Structural context available