E2Q (p.Glu2Gln) variant of PLN (Phospholamban)
E2Q (p.Glu2Gln) in PLN (Phospholamban) 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 and structural context.
E2Q (p.Glu2Gln) variant details
- p.Glu2Gln
- rs758364608
- NCI-TCGA Cosmic COSV6264
- ExAC rs758364608
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.54
- MetaLR 0.61
- MetaSVM 0.05
- CADD 23.60
- PolyPhen-2 0.14
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available