P5P (p.Pro5Pro) variant of CFTR (P13569)
P5P (p.Pro5Pro) in CFTR (P13569) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P5P (p.Pro5Pro) variant details
- p.Pro5Pro
- rs751475070
- gnomAD 7-117480109-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.184
- CADD 14.60
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available
- Literature evidence available