N86K (p.Asn86Lys) variant of CHRNA4 (P43681)
N86K (p.Asn86Lys) 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.
N86K (p.Asn86Lys) variant details
- p.Asn86Lys
- rs140239470
- ClinGen CA409641461
- ClinVar RCV001568770
- 1000Genomes rs140239470
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.57
- CADD 19.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 6e-05)