L152V (p.Leu152Val) variant of STAT2 (P52630)
L152V (p.Leu152Val) in STAT2 (P52630) 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 0.35 / 1. The record also includes population frequency data and structural context.
L152V (p.Leu152Val) variant details
- p.Leu152Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.36
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available