Q25K (p.Gln25Lys) variant of FERMT1 (Fermitin family homolog 1)
Q25K (p.Gln25Lys) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
Q25K (p.Gln25Lys) variant details
- p.Gln25Lys
- ExAC rs752585747
- gnomAD rs752585747
- Missense
- Variant Prioritization Score for Impact Estimate 0.0876
- REVEL 0.05
- CADD 1.08
- PolyPhen-2 0.00
- SIFT 0.91
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available