S50C (p.Ser50Cys) variant of CFTR (P13569)
S50C (p.Ser50Cys) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
S50C (p.Ser50Cys) variant details
- p.Ser50Cys
- gnomAD 7-117504348-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.63
- ESM-1b 0.00
- AlphaMissense 0.32
- MetaLR 0.77
- MetaSVM 0.52
- CADD 26.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available