L48P (p.Leu48Pro) variant of CD276 (CD276 antigen)
L48P (p.Leu48Pro) in CD276 (CD276 antigen) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
L48P (p.Leu48Pro) variant details
- p.Leu48Pro
- Ensembl rs1596012895
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.43
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available