S50S (p.Ser50Ser) variant of CFTR (P13569)
S50S (p.Ser50Ser) in CFTR (P13569) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S50S (p.Ser50Ser) variant details
- p.Ser50Ser
- gnomAD 7-117504349-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.555
- CADD 10.90
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Literature evidence available