R29T (p.Arg29Thr) variant of CFTR (P13569)
R29T (p.Arg29Thr) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R29T (p.Arg29Thr) variant details
- p.Arg29Thr
- ExAC rs748005919
- gnomAD rs748005919
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.73
- MetaSVM 0.56
- CADD 23.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available