S4S (p.Ser4Ser) variant of CFTR (P13569)
S4S (p.Ser4Ser) in CFTR (P13569) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S4S (p.Ser4Ser) variant details
- p.Ser4Ser
- rs1158877973
- gnomAD 7-117480106-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.259
- CADD 14.80
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Literature evidence available