L31V (p.Leu31Val) variant of PLN (Phospholamban)
L31V (p.Leu31Val) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L31V (p.Leu31Val) variant details
- p.Leu31Val
- gnomAD 6-118559012-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.81
- MetaLR 0.79
- MetaSVM 0.69
- CADD 22.30
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available