P137Q (p.Pro137Gln) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
P137Q (p.Pro137Gln) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency; Systemi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
P137Q (p.Pro137Gln) variant details
- p.Pro137Gln
- rs1553657429
- ClinGen CA350138739
- cosmic curated COSV99865
- ClinVar RCV000695947
- Conflicting interpretations
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency; Systemi
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- AlphaMissense 0.61
- MetaLR 0.30
- MetaSVM -0.42
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Conflicting classifications of pathogenicity (Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuff)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available