F10V (p.Phe10Val) variant of SPTBN2 (O15020)
F10V (p.Phe10Val) in SPTBN2 (O15020) 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.
F10V (p.Phe10Val) variant details
- p.Phe10Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.17
- CADD 22.60
- PolyPhen-2 0.06
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)