L14R (p.Leu14Arg) variant of FERMT1 (Fermitin family homolog 1)
L14R (p.Leu14Arg) in FERMT1 (Fermitin family homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
L14R (p.Leu14Arg) variant details
- p.Leu14Arg
- rs999728597
- ClinGen CA408195610
- ClinVar RCV002012200
- TOPMed rs999728597
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.73
- CADD 25.40
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available