K45Q (p.Lys45Gln) variant of FERMT1 (Fermitin family homolog 1)
K45Q (p.Lys45Gln) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
K45Q (p.Lys45Gln) variant details
- p.Lys45Gln
- ExAC rs780266799
- gnomAD rs780266799
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.11
- CADD 20.60
- PolyPhen-2 0.13
- SIFT 0.26
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available