N48Q (p.Asn48Gln) variant of CCR5 (C-C chemokine receptor type 5)
N48Q (p.Asn48Gln) in CCR5 (C-C chemokine receptor type 5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
N48Q (p.Asn48Gln) variant details
- p.Asn48Gln
- gnomAD 3-46373039-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.374
- CADD 24.80
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available