R31S (p.Arg31Ser) variant of CFTR (P13569)
R31S (p.Arg31Ser) in CFTR (P13569) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in CF. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R31S (p.Arg31Ser) variant details
- p.Arg31Ser
- 1000Genomes rs1800073
- ESP rs1800073
- ExAC rs1800073
- TOPMed rs1800073
- Likely benign
- in CF
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.26
- MetaLR 0.65
- MetaSVM -0.19
- CADD 22.20
- EBI: Likely benign (in CF)
- UniProt: Likely benign (in CF)
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available