S31F (p.Ser31Phe) variant of PIEZO2 (Q9H5I5)
S31F (p.Ser31Phe) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
S31F (p.Ser31Phe) variant details
- p.Ser31Phe
- cosmic curated COSV10883
- TOPMed rs890959167
- gnomAD rs890959167
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.65
- MetaSVM 0.35
- CADD 28.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available