I42N (p.Ile42Asn) variant of CCR5 (C-C chemokine receptor type 5)
I42N (p.Ile42Asn) in CCR5 (C-C chemokine receptor type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
I42N (p.Ile42Asn) variant details
- p.Ile42Asn
- gnomAD 3-46373027-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.26
- MetaLR 0.26
- MetaSVM -0.36
- CADD 25.40
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Literature evidence available