A30V (p.Ala30Val) variant of CCR5 (C-C chemokine receptor type 5)
A30V (p.Ala30Val) in CCR5 (C-C chemokine receptor type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- gnomAD 3-46372991-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.19
- MetaLR 0.16
- MetaSVM -0.84
- CADD 13.80
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available