K148N (p.Lys148Asn) variant of FERMT1 (Fermitin family homolog 1)
K148N (p.Lys148Asn) in FERMT1 (Fermitin family homolog 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 0.44 / 1. The record also includes population frequency data and structural context.
K148N (p.Lys148Asn) variant details
- p.Lys148Asn
- TOPMed rs1322714659
- gnomAD rs1322714659
- NCI-TCGA Cosmic COSV9945
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.45
- CADD 24.90
- PolyPhen-2 0.95
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available