L61F (p.Leu61Phe) variant of FERMT1 (Fermitin family homolog 1)
L61F (p.Leu61Phe) in FERMT1 (Fermitin family homolog 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L61F (p.Leu61Phe) variant details
- p.Leu61Phe
- rs754978561
- NCI-TCGA Cosmic COSV5409
- NCI-TCGA Cosmic COSV9945
- ExAC rs754978561
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.15
- CADD 23.50
- PolyPhen-2 0.12
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available