K148R (p.Lys148Arg) variant of FERMT1 (Fermitin family homolog 1)
K148R (p.Lys148Arg) 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 0.60 / 1. The record also includes structural context.
K148R (p.Lys148Arg) variant details
- p.Lys148Arg
- rs112168905
- ClinGen CA311229895
- ClinVar RCV002639908
- Ensembl rs112168905
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- AlphaMissense 0.31
- MetaLR 0.60
- MetaSVM 0.27
- PolyPhen-2 0.99
- SIFT 0.04
- EVE 0.72
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available