S51F (p.Ser51Phe) variant of CD276 (CD276 antigen)
S51F (p.Ser51Phe) in CD276 (CD276 antigen) is a missense change. Clinical records from ClinVar, EBI, 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 0.44 / 1. The record also includes population frequency data and structural context.
S51F (p.Ser51Phe) variant details
- p.Ser51Phe
- rs370507291
- ClinGen CA7650183
- cosmic curated COSV59205
- ClinVar RCV004433372
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.28
- CADD 24.90
- PolyPhen-2 0.91
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 0.25)
- Structural context available