L17F (p.Leu17Phe) variant of ITGB4 (Integrin beta-4)
L17F (p.Leu17Phe) in ITGB4 (Integrin beta-4) 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 0.22 / 1. The record also includes population frequency data and structural context.
L17F (p.Leu17Phe) variant details
- p.Leu17Phe
- NCI-TCGA Cosmic COSV5232
- cosmic curated COSV52324
- TOPMed rs2060684696
- gnomAD rs2060684696
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.15
- CADD 17.00
- PolyPhen-2 0.15
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available