K113N (p.Lys113Asn) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
K113N (p.Lys113Asn) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) 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 0.25 / 1. The record also includes population frequency data and structural context.
K113N (p.Lys113Asn) variant details
- p.Lys113Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.14
- MetaSVM -1.03
- CADD 14.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available