I42V (p.Ile42Val) variant of CCR5 (C-C chemokine receptor type 5)
I42V (p.Ile42Val) in CCR5 (C-C chemokine receptor type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
I42V (p.Ile42Val) variant details
- p.Ile42Val
- gnomAD 3-46373026-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.19
- MetaLR 0.07
- MetaSVM -1.03
- CADD 8.09
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available