Y28C (p.Tyr28Cys) variant of CFTR (P13569)
Y28C (p.Tyr28Cys) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
Y28C (p.Tyr28Cys) variant details
- p.Tyr28Cys
- gnomAD 7-117504282-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.75
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.86
- MetaSVM 1.02
- CADD 26.00
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Literature evidence available