V31F (p.Val31Phe) variant of CD276 (CD276 antigen)
V31F (p.Val31Phe) in CD276 (CD276 antigen) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
V31F (p.Val31Phe) variant details
- p.Val31Phe
- gnomAD rs766904389
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.45
- CADD 21.90
- PolyPhen-2 0.73
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available