N164K (p.Asn164Lys) variant of FLNB (Filamin-B)
N164K (p.Asn164Lys) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Larsen syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
N164K (p.Asn164Lys) variant details
- p.Asn164Lys
- rs886042790
- ClinGen CA10604687
- ClinVar RCV000314947
- Ensembl rs886042790
- Likely pathogenic
- Larsen syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- AlphaMissense 0.91
- MetaLR 0.81
- MetaSVM 0.77
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.14
- ClinVar: Likely pathogenic (Larsen syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available