R25S (p.Arg25Ser) variant of PLN (Phospholamban)
R25S (p.Arg25Ser) 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 0.59 / 1. The record also includes population frequency data and structural context.
R25S (p.Arg25Ser) variant details
- p.Arg25Ser
- NCI-TCGA Cosmic COSV1006
- NCI-TCGA Cosmic COSV6264
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.68
- MetaLR 0.51
- MetaSVM 0.08
- CADD 22.90
- PolyPhen-2 0.06
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available