L48P (p.Leu48Pro) variant of CD80 (P33681)
L48P (p.Leu48Pro) in CD80 (P33681) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
L48P (p.Leu48Pro) variant details
- p.Leu48Pro
- 1000Genomes rs142547094
- ExAC rs142547094
- gnomAD rs142547094
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.67
- MetaLR 0.71
- MetaSVM 0.73
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available