P34S (p.Pro34Ser) variant of CD276 (CD276 antigen)
P34S (p.Pro34Ser) 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 0.31 / 1. The record also includes population frequency data and structural context.
P34S (p.Pro34Ser) variant details
- p.Pro34Ser
- rs1022188310
- ClinGen CA272664021
- ClinVar RCV004315165
- TOPMed rs1022188310
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.13
- CADD 15.80
- PolyPhen-2 0.12
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available