A16D (p.Ala16Asp) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
A16D (p.Ala16Asp) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A16D (p.Ala16Asp) variant details
- p.Ala16Asp
- cosmic curated COSV55592
- ExAC rs772433747
- TOPMed rs772433747
- gnomAD rs772433747
- Benign
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- MetaLR 0.08
- MetaSVM -1.02
- CADD 6.11
- PolyPhen-2 0.06
- SIFT 0.21
- ClinVar: Benign (Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuff)
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00033)
- Structural context available