S131F (p.Ser131Phe) variant of PBRM1 (Protein polybromo-1)
S131F (p.Ser131Phe) in PBRM1 (Protein polybromo-1) 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 0.59 / 1. The record also includes population frequency data and structural context.
S131F (p.Ser131Phe) variant details
- p.Ser131Phe
- NCI-TCGA TCGA novel
- Ensembl rs2153929707
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.44
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available