P43A (p.Pro43Ala) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
P43A (p.Pro43Ala) 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; Inherit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes structural context.
P43A (p.Pro43Ala) variant details
- p.Pro43Ala
- rs1581573640
- ClinGen CA350138120
- ClinVar RCV001027564
- ClinVar RCV005863327
- Conflicting interpretations
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency; Inherit
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- AlphaMissense 0.46
- MetaLR 0.50
- MetaSVM 0.09
- PolyPhen-2 0.22
- SIFT 0.01
- EVE 0.72
- ClinVar: Conflicting classifications of pathogenicity (Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuff)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available