S50F (p.Ser50Phe) variant of CFTR (P13569)
S50F (p.Ser50Phe) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
S50F (p.Ser50Phe) variant details
- p.Ser50Phe
- gnomAD 7-117504348-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.79
- MetaSVM 0.61
- CADD 27.30
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available
- Literature evidence available