P47T (p.Pro47Thr) variant of PIEZO2 (Q9H5I5)
P47T (p.Pro47Thr) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P47T (p.Pro47Thr) variant details
- p.Pro47Thr
- rs2033616856
- gnomAD 18-10666676-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- ESM-1b 0.00
- AlphaMissense 0.97
- CADD 0.32
- Population evidence available
- Structural context available
- Literature evidence available