L81F (p.Leu81Phe) variant of PIEZO2 (Q9H5I5)
L81F (p.Leu81Phe) in PIEZO2 (Q9H5I5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L81F (p.Leu81Phe) variant details
- p.Leu81Phe
- rs1217929975
- NCI-TCGA Cosmic COSV5746
- cosmic curated COSV57461
- gnomAD rs1217929975
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.17
- MetaSVM -0.89
- CADD 22.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available