G27D (p.Gly27Asp) variant of CD80 (P33681)
G27D (p.Gly27Asp) in CD80 (P33681) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
G27D (p.Gly27Asp) variant details
- p.Gly27Asp
- gnomAD rs1312884053
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.09
- MetaLR 0.06
- MetaSVM -1.00
- CADD 13.20
- PolyPhen-2 0.92
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available