L37V (p.Leu37Val) variant of PLN (Phospholamban)
L37V (p.Leu37Val) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
L37V (p.Leu37Val) variant details
- p.Leu37Val
- TOPMed rs1266890278
- gnomAD rs1266890278
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.81
- MetaLR 0.85
- MetaSVM 0.85
- CADD 24.00
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available