L101V (p.Leu101Val) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L101V (p.Leu101Val) 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 0.14 / 1. The record also includes population frequency data and structural context.
L101V (p.Leu101Val) variant details
- p.Leu101Val
- Ensembl rs1905715359
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.02
- MetaSVM -1.01
- CADD 6.18
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available