L13R (p.Leu13Arg) variant of CD2 (T-cell surface antigen CD2)
L13R (p.Leu13Arg) in CD2 (T-cell surface antigen CD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L13R (p.Leu13Arg) variant details
- p.Leu13Arg
- gnomAD 1-116754530-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.67
- MetaLR 0.59
- MetaSVM 0.22
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available