T17S (p.Thr17Ser) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
T17S (p.Thr17Ser) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
T17S (p.Thr17Ser) variant details
- p.Thr17Ser
- TOPMed rs1484109503
- gnomAD rs1484109503
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- MetaLR 0.03
- MetaSVM -1.03
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign (in dbSNP:rs231775)
- UniProt: Benign (in dbSNP:rs231775)
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available