N48N (p.Asn48Asn) variant of CFTR (P13569)
N48N (p.Asn48Asn) in CFTR (P13569) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
N48N (p.Asn48Asn) variant details
- p.Asn48Asn
- gnomAD 7-117504343-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.22
- CADD 7.81
- Population evidence available
- Structural context available
- Literature evidence available