H35Q (p.His35Gln) variant of CHRNA4 (P43681)
H35Q (p.His35Gln) in CHRNA4 (P43681) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
H35Q (p.His35Gln) variant details
- p.His35Gln
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.33
- CADD 2.52
- PolyPhen-2 0.06
- SIFT 0.34
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)