H67Q (p.His67Gln) variant of FERMT1 (Fermitin family homolog 1)
H67Q (p.His67Gln) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
H67Q (p.His67Gln) variant details
- p.His67Gln
- Ensembl rs1983087208
- Missense
- Variant Prioritization Score for Impact Estimate 0.0418
- REVEL 0.02
- CADD 1.58
- PolyPhen-2 0.00
- SIFT 0.42
- Population evidence available
- Structural context available