K52N (p.Lys52Asn) variant of CFTR (P13569)
K52N (p.Lys52Asn) in CFTR (P13569) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
K52N (p.Lys52Asn) variant details
- p.Lys52Asn
- rs1346705436
- gnomAD 7-117504350-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.795
- CADD 29.60
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available
- Literature evidence available