N129K (p.Asn129Lys) variant of FERMT1 (Fermitin family homolog 1)
N129K (p.Asn129Lys) 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 0.41 / 1. The record also includes population frequency data and structural context.
N129K (p.Asn129Lys) variant details
- p.Asn129Lys
- rs1269063125
- ClinGen CA408190848
- ClinVar RCV002829814
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.45
- CADD 24.50
- PolyPhen-2 0.41
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available