V40M (p.Val40Met) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
V40M (p.Val40Met) 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 Inborn genetic diseases; Autoimmune lymphoproliferative syndrome due to CTLA4 ha. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
V40M (p.Val40Met) variant details
- p.Val40Met
- rs1553657378
- ClinGen CA350138101
- cosmic curated COSV55592
- ClinVar RCV000604644
- Conflicting interpretations
- Inborn genetic diseases; Autoimmune lymphoproliferative syndrome due to CTLA4 ha
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- AlphaMissense 0.47
- MetaLR 0.29
- MetaSVM -0.43
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Autoimmune lymphoproliferative syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)