S46F (p.Ser46Phe) variant of CHRNA4 (P43681)
S46F (p.Ser46Phe) 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 0.32 / 1. The record also includes population frequency data.
S46F (p.Ser46Phe) variant details
- p.Ser46Phe
- NCI-TCGA Cosmic COSV6471
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.17
- CADD 26.00
- PolyPhen-2 0.58
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)