S4P (p.Ser4Pro) variant of CFTR (P13569)
S4P (p.Ser4Pro) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S4P (p.Ser4Pro) variant details
- p.Ser4Pro
- ExAC rs775329266
- TOPMed rs775329266
- gnomAD rs775329266
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.62
- ESM-1b 0.06
- AlphaMissense 0.59
- MetaLR 0.65
- MetaSVM 0.30
- CADD 28.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available