P22P (p.Pro22Pro) variant of CFTR (P13569)
P22P (p.Pro22Pro) in CFTR (P13569) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P22P (p.Pro22Pro) variant details
- p.Pro22Pro
- rs748899228
- gnomAD 7-117504265-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.447
- CADD 12.20
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available