L8V (p.Leu8Val) variant of CD28 (P10747)
L8V (p.Leu8Val) in CD28 (P10747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L8V (p.Leu8Val) variant details
- p.Leu8Val
- 1000Genomes rs141027316
- ESP rs141027316
- ExAC rs141027316
- TOPMed rs141027316
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.43
- MetaLR 0.57
- MetaSVM -0.58
- CADD 20.20
- PolyPhen-2 0.12
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available