L44H (p.Leu44His) variant of FERMT1 (Fermitin family homolog 1)
L44H (p.Leu44His) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
L44H (p.Leu44His) variant details
- p.Leu44His
- gnomAD rs1162275820
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.55
- CADD 27.40
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available