E37V (p.Glu37Val) variant of CHRNA4 (P43681)
E37V (p.Glu37Val) 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 0.60 / 1. The record also includes population frequency data.
E37V (p.Glu37Val) variant details
- p.Glu37Val
- NCI-TCGA Cosmic COSV6471
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.64
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)