M72I (p.Met72Ile) variant of CD80 (P33681)
M72I (p.Met72Ile) in CD80 (P33681) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
M72I (p.Met72Ile) variant details
- p.Met72Ile
- 1000Genomes rs554004644
- ExAC rs554004644
- gnomAD rs554004644
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.10
- MetaLR 0.23
- MetaSVM -0.89
- CADD 23.30
- PolyPhen-2 0.51
- SIFT 0.03
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available