R31H (p.Arg31His) variant of CFTR (P13569)
R31H (p.Arg31His) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R31H (p.Arg31His) variant details
- p.Arg31His
- rs149353983
- ClinGen CA4450633
- ClinVar RCV000670527
- ClinVar RCV001580534
- Uncertain significance
- not specified; not provided; Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.59
- MetaSVM -0.45
- CADD 20.00
- ClinVar: Uncertain significance (not specified; not provided; Cystic fibrosis)
- EBI: Variant of uncertain significance (in CF)
- UniProt: Uncertain significance (in CF)
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)