P54A (p.Pro54Ala) variant of CD276 (CD276 antigen)
P54A (p.Pro54Ala) in CD276 (CD276 antigen) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P54A (p.Pro54Ala) variant details
- p.Pro54Ala
- TOPMed rs1435172384
- gnomAD rs1435172384
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.07
- CADD 8.55
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available