A17S (p.Ala17Ser) variant of CD7 (T-cell antigen CD7)
A17S (p.Ala17Ser) in CD7 (T-cell antigen CD7) 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 0.18 / 1. The record also includes population frequency data.
A17S (p.Ala17Ser) variant details
- p.Ala17Ser
- TOPMed rs1486993659
- gnomAD rs1486993659
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.02
- CADD 2.38
- PolyPhen-2 0.12
- SIFT 0.34
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.1e-05)