A40V (p.Ala40Val) variant of CD276 (CD276 antigen)
A40V (p.Ala40Val) in CD276 (CD276 antigen) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- gnomAD 15-73702294-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.12
- CADD 23.20
- PolyPhen-2 0.18
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available