L3P (p.Leu3Pro) variant of RBM20 (RNA-binding protein 20)
L3P (p.Leu3Pro) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L3P (p.Leu3Pro) variant details
- p.Leu3Pro
- gnomAD 10-110644462-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.28
- MetaLR 0.52
- MetaSVM -0.36
- CADD 20.50
- PolyPhen-2 0.06
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available