L56F (p.Leu56Phe) variant of VSIR (Q9H7M9)
L56F (p.Leu56Phe) in VSIR (Q9H7M9) 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 0.23 / 1. The record also includes population frequency data and structural context.
L56F (p.Leu56Phe) variant details
- p.Leu56Phe
- rs1296226004
- NCI-TCGA Cosmic COSV5649
- TOPMed rs1296226004
- gnomAD rs1296226004
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.01
- CADD 0.77
- PolyPhen-2 0.34
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available