A20T (p.Ala20Thr) variant of PIEZO2 (Q9H5I5)
A20T (p.Ala20Thr) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- TOPMed rs2040867671
- gnomAD rs2040867671
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.23
- MetaSVM -0.70
- CADD 24.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available