I54V (p.Ile54Val) variant of CD2 (T-cell surface antigen CD2)
I54V (p.Ile54Val) in CD2 (T-cell surface antigen CD2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
I54V (p.Ile54Val) variant details
- p.Ile54Val
- ExAC rs757140428
- gnomAD rs757140428
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0758
- REVEL 0.02
- MetaLR 0.05
- MetaSVM -0.97
- CADD 3.17
- PolyPhen-2 0.03
- SIFT 0.41
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available