T72P (p.Thr72Pro) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
T72P (p.Thr72Pro) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes structural context.
T72P (p.Thr72Pro) variant details
- p.Thr72Pro
- rs1206369281
- ClinGen CA350138302
- ClinVar RCV000658895
- gnomAD rs1206369281
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- AlphaMissense 0.91
- MetaLR 0.40
- MetaSVM -0.10
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.76
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available