L73V (p.Leu73Val) variant of PIEZO2 (Q9H5I5)
L73V (p.Leu73Val) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L73V (p.Leu73Val) variant details
- p.Leu73Val
- ExAC rs757777810
- gnomAD rs757777810
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.37
- MetaSVM -0.61
- CADD 20.60
- Most common in the South Asian population (allele frequency 5.1e-05)
- Structural context available