Y38Y (p.Tyr38Tyr) variant of CFTR (P13569)
Y38Y (p.Tyr38Tyr) in CFTR (P13569) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Y38Y (p.Tyr38Tyr) variant details
- p.Tyr38Tyr
- gnomAD 7-117504313-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 7.33
- Most common in the HGDP:PATHAN population (allele frequency 0.083)
- Structural context available
- Literature evidence available