C49S (p.Cys49Ser) variant of CD276 (CD276 antigen)
C49S (p.Cys49Ser) in CD276 (CD276 antigen) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
C49S (p.Cys49Ser) variant details
- p.Cys49Ser
- gnomAD 15-73702321-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.12
- CADD 9.05
- PolyPhen-2 0.00
- SIFT 0.84
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available