V87I (p.Val87Ile) variant of CHRNA4 (P43681)
V87I (p.Val87Ile) in CHRNA4 (P43681) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
V87I (p.Val87Ile) variant details
- p.Val87Ile
- ExAC rs780927117
- TOPMed rs780927117
- gnomAD rs780927117
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.56
- CADD 23.60
- PolyPhen-2 0.28
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)