S13S (p.Ser13Ser) variant of CFTR (P13569)
S13S (p.Ser13Ser) in CFTR (P13569) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
S13S (p.Ser13Ser) variant details
- p.Ser13Ser
- gnomAD 7-117480133-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.695
- CADD 17.10
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available
- Literature evidence available