I40V (p.Ile40Val) variant of PLN (Phospholamban)
I40V (p.Ile40Val) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
I40V (p.Ile40Val) variant details
- p.Ile40Val
- gnomAD 6-118559039-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.63
- MetaLR 0.61
- MetaSVM 0.35
- CADD 22.80
- PolyPhen-2 0.39
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available