S27T (p.Ser27Thr) variant of CHRNA4 (P43681)
S27T (p.Ser27Thr) in CHRNA4 (P43681) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data.
S27T (p.Ser27Thr) variant details
- p.Ser27Thr
- ExAC rs776391457
- gnomAD rs776391457
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.05
- CADD 5.58
- PolyPhen-2 0.05
- SIFT 0.44
- Most common in the South Asian population (allele frequency 7e-05)