L53F (p.Leu53Phe) variant of KCNE2 (Q9Y6J6)
L53F (p.Leu53Phe) in KCNE2 (Q9Y6J6) 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 0.66 / 1. The record also includes population frequency data and structural context.
L53F (p.Leu53Phe) variant details
- p.Leu53Phe
- rs1411888390
- NCI-TCGA Cosmic COSV5171
- gnomAD rs1411888390
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.64
- ESM-1b 0.00
- AlphaMissense 0.62
- MetaLR 0.83
- MetaSVM 0.78
- CADD 25.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available