A11G (p.Ala11Gly) variant of PLN (Phospholamban)
A11G (p.Ala11Gly) 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 0.81 / 1. The record also includes population frequency data and structural context.
A11G (p.Ala11Gly) variant details
- p.Ala11Gly
- NCI-TCGA Cosmic COSV6264
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.80
- MetaLR 0.85
- MetaSVM 0.85
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available