Y28Y (p.Tyr28Tyr) variant of CFTR (P13569)
Y28Y (p.Tyr28Tyr) in CFTR (P13569) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
Y28Y (p.Tyr28Tyr) variant details
- p.Tyr28Tyr
- rs1212639681
- gnomAD 7-117504283-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 5.57
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available
- Literature evidence available