S18R (p.Ser18Arg) variant of CFTR (P13569)
S18R (p.Ser18Arg) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S18R (p.Ser18Arg) variant details
- p.Ser18Arg
- gnomAD 7-117480146-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.27
- MetaLR 0.67
- MetaSVM 0.19
- CADD 24.80
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available
- Literature evidence available