N48K (p.Asn48Lys) variant of CCR5 (C-C chemokine receptor type 5)
N48K (p.Asn48Lys) in CCR5 (C-C chemokine receptor type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
N48K (p.Asn48Lys) variant details
- p.Asn48Lys
- gnomAD rs1405206791
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.72
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available