T39N (p.Thr39Asn) variant of CD80 (P33681)
T39N (p.Thr39Asn) in CD80 (P33681) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T39N (p.Thr39Asn) variant details
- p.Thr39Asn
- gnomAD rs1224527849
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.02
- MetaLR 0.14
- MetaSVM -1.02
- CADD 15.10
- PolyPhen-2 0.03
- SIFT 0.18
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available