I38V (p.Ile38Val) variant of CASP8 (Caspase-8)
I38V (p.Ile38Val) in CASP8 (Caspase-8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autoimmune lymphoproliferative syndrome type 2B; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
I38V (p.Ile38Val) variant details
- p.Ile38Val
- rs771007977
- ClinGen CA2053447
- ClinVar RCV002640550
- ClinVar RCV005537538
- Uncertain significance
- Autoimmune lymphoproliferative syndrome type 2B; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- CADD 20.90
- PolyPhen-2 0.56
- SIFT 0.04
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome type 2B; Inborn genetic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- 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)