R31L (p.Arg31Leu) variant of CFTR (P13569)
R31L (p.Arg31Leu) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R31L (p.Arg31Leu) variant details
- p.Arg31Leu
- rs149353983
- ClinGen CA327694
- ClinVar RCV000577473
- ClinVar RCV000581319
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.55
- ESM-1b 0.19
- AlphaMissense 0.17
- MetaLR 0.65
- MetaSVM -0.22
- CADD 21.00
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Variant of uncertain significance (in CF)
- UniProt: Uncertain significance (in CF)
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available
- Cited in: Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane… (PMID 7537150)
- Cited in: Cystic Fibrosis. (PMID 20301428)