C3F (p.Cys3Phe) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
C3F (p.Cys3Phe) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
C3F (p.Cys3Phe) variant details
- p.Cys3Phe
- TOPMed rs1289408071
- gnomAD rs1289408071
- Likely benign
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- MetaLR 0.07
- MetaSVM -1.06
- CADD 13.30
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Likely benign (Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuff)
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available