I42F (p.Ile42Phe) variant of CCR5 (C-C chemokine receptor type 5)
I42F (p.Ile42Phe) in CCR5 (C-C chemokine receptor type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
I42F (p.Ile42Phe) variant details
- p.Ile42Phe
- rs1475319259
- UniProt VAR 024068
- gnomAD rs1475319259
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.25
- CADD 22.20
- PolyPhen-2 0.47
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Novel alleles of the chemokine-receptor gene CCR5. (PMID 9399903)