G47D (p.Gly47Asp) variant of CHRNA4 (P43681)
G47D (p.Gly47Asp) 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 0.42 / 1. The record also includes population frequency data.
G47D (p.Gly47Asp) variant details
- p.Gly47Asp
- rs764990637
- ClinGen CA16608414
- ClinVar RCV000419664
- ExAC rs764990637
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.21
- CADD 21.50
- PolyPhen-2 0.11
- SIFT 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)