T8I (p.Thr8Ile) variant of PLN (Phospholamban)
T8I (p.Thr8Ile) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
T8I (p.Thr8Ile) variant details
- p.Thr8Ile
- gnomAD 6-118558944-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.80
- MetaLR 0.58
- MetaSVM 0.18
- CADD 23.30
- PolyPhen-2 0.21
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available