D47V (p.Asp47Val) variant of CFTR (P13569)
D47V (p.Asp47Val) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
D47V (p.Asp47Val) variant details
- p.Asp47Val
- gnomAD 7-117504339-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.81
- ESM-1b 0.26
- AlphaMissense 0.74
- MetaLR 0.93
- MetaSVM 1.05
- CADD 26.80
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available