R9G (p.Arg9Gly) variant of PLN (Phospholamban)
R9G (p.Arg9Gly) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R9G (p.Arg9Gly) variant details
- p.Arg9Gly
- gnomAD 6-118558946-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.91
- MetaLR 0.78
- MetaSVM 0.70
- CADD 26.20
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available