K147N (p.Lys147Asn) variant of FERMT1 (Fermitin family homolog 1)
K147N (p.Lys147Asn) 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 0.24 / 1. The record also includes population frequency data and structural context.
K147N (p.Lys147Asn) variant details
- p.Lys147Asn
- rs377153001
- ClinGen CA9758461
- ClinVar RCV000522055
- ESP rs377153001
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.11
- CADD 21.10
- PolyPhen-2 0.25
- SIFT 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available