G22S (p.Gly22Ser) variant of CHRNA4 (P43681)
G22S (p.Gly22Ser) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar 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 0.11 / 1. The record also includes population frequency data.
G22S (p.Gly22Ser) variant details
- p.Gly22Ser
- gnomAD rs1208604806
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.09
- CADD 9.69
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.4e-05)