I48T (p.Ile48Thr) variant of PLN (Phospholamban)
I48T (p.Ile48Thr) 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.
I48T (p.Ile48Thr) variant details
- p.Ile48Thr
- gnomAD 6-118559064-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.89
- MetaLR 0.78
- MetaSVM 0.73
- CADD 26.40
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available