S45T (p.Ser45Thr) variant of PIEZO2 (Q9H5I5)
S45T (p.Ser45Thr) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
S45T (p.Ser45Thr) variant details
- p.Ser45Thr
- rs1017368274
- gnomAD 18-10666727-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 2.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available