N18S (p.Asn18Ser) variant of CD80 (P33681)
N18S (p.Asn18Ser) in CD80 (P33681) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
N18S (p.Asn18Ser) variant details
- p.Asn18Ser
- TOPMed rs1256099911
- gnomAD rs1256099911
- Missense
- Variant Prioritization Score for Impact Estimate 0.0629
- REVEL 0.02
- MetaLR 0.01
- MetaSVM -0.99
- CADD 0.19
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available