E11N (p.Glu11Asn) variant of PDCD1LG2 (Programmed cell death 1 ligand 2)
E11N (p.Glu11Asn) in PDCD1LG2 (Programmed cell death 1 ligand 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E11N (p.Glu11Asn) variant details
- p.Glu11Asn
- rs567501802
- gnomAD 9-5522575-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.561
- CADD 25.60
- Most common in the HGDP:BEDOUIN population (allele frequency 0.048)
- Structural context available
- Literature evidence available