A18S (p.Ala18Ser) variant of CD8A (P01732)
A18S (p.Ala18Ser) in CD8A (P01732) 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 0.30 / 1. The record also includes population frequency data.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- rs1401592907
- ClinGen CA347577418
- ClinVar RCV002266351
- TOPMed rs1401592907
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.24
- MetaLR 0.34
- MetaSVM -0.78
- CADD 11.30
- PolyPhen-2 0.19
- SIFT 0.16
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)