S4A (p.Ser4Ala) variant of CFTR (P13569)
S4A (p.Ser4Ala) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes structural context.
S4A (p.Ser4Ala) variant details
- p.Ser4Ala
- ExAC rs775329266
- TOPMed rs775329266
- gnomAD rs775329266
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- ESM-1b 0.00
- AlphaMissense 0.31
- MetaLR 0.53
- MetaSVM -0.02
- SIFT 0.02
- Structural context available