N53S (p.Asn53Ser) variant of CD80 (P33681)
N53S (p.Asn53Ser) in CD80 (P33681) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
N53S (p.Asn53Ser) variant details
- p.Asn53Ser
- Ensembl rs1014349892
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.27
- MetaLR 0.25
- MetaSVM -0.87
- CADD 22.70
- PolyPhen-2 0.65
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available