I57K (p.Ile57Lys) variant of CD2 (T-cell surface antigen CD2)
I57K (p.Ile57Lys) in CD2 (T-cell surface antigen CD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
I57K (p.Ile57Lys) variant details
- p.Ile57Lys
- gnomAD 1-116754739-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.37
- MetaLR 0.24
- MetaSVM -0.81
- CADD 22.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available