S130F (p.Ser130Phe) variant of VSIR (Q9H7M9)
S130F (p.Ser130Phe) 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 0.40 / 1. The record also includes population frequency data and structural context.
S130F (p.Ser130Phe) variant details
- p.Ser130Phe
- rs1001283730
- NCI-TCGA Cosmic COSV9982
- TOPMed rs1001283730
- gnomAD rs1001283730
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.14
- CADD 23.00
- PolyPhen-2 0.36
- SIFT 0.31
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available