I40T (p.Ile40Thr) variant of PLN (Phospholamban)
I40T (p.Ile40Thr) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
I40T (p.Ile40Thr) variant details
- p.Ile40Thr
- gnomAD 6-118559040-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.86
- MetaLR 0.78
- MetaSVM 0.73
- CADD 25.00
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available