T8N (p.Thr8Asn) variant of PLN (Phospholamban)
T8N (p.Thr8Asn) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
T8N (p.Thr8Asn) variant details
- p.Thr8Asn
- gnomAD 6-118558944-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.78
- MetaLR 0.81
- MetaSVM 0.81
- CADD 24.70
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available