L37F (p.Leu37Phe) variant of FERMT1 (Fermitin family homolog 1)
L37F (p.Leu37Phe) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L37F (p.Leu37Phe) variant details
- p.Leu37Phe
- ExAC rs762180518
- TOPMed rs762180518
- gnomAD rs762180518
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.26
- CADD 23.10
- PolyPhen-2 0.92
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available