R33P (p.Arg33Pro) variant of CHRNA4 (P43681)
R33P (p.Arg33Pro) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
R33P (p.Arg33Pro) variant details
- p.Arg33Pro
- rs201575409
- ClinGen CA317446017
- ClinVar RCV000711168
- 1000Genomes rs201575409
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.41
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)