R25G (p.Arg25Gly) variant of CFTR (P13569)
R25G (p.Arg25Gly) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R25G (p.Arg25Gly) variant details
- p.Arg25Gly
- gnomAD 7-117504272-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.46
- ESM-1b 0.07
- AlphaMissense 0.13
- MetaLR 0.54
- MetaSVM -0.26
- CADD 18.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available