L69V (p.Leu69Val) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L69V (p.Leu69Val) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L69V (p.Leu69Val) variant details
- p.Leu69Val
- gnomAD rs1337068385
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.20
- MetaSVM -0.88
- CADD 19.90
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available