K65N (p.Lys65Asn) variant of FLNB (Filamin-B)
K65N (p.Lys65Asn) in FLNB (Filamin-B) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K65N (p.Lys65Asn) variant details
- p.Lys65Asn
- Ensembl rs2106655440
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.84
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.431