D47N (p.Asp47Asn) variant of CFTR (P13569)
D47N (p.Asp47Asn) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
D47N (p.Asp47Asn) variant details
- p.Asp47Asn
- gnomAD 7-117504338-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.38
- MetaLR 0.88
- MetaSVM 0.85
- CADD 28.60
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available