P33L (p.Pro33Leu) variant of RBM20 (RNA-binding protein 20)
P33L (p.Pro33Leu) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P33L (p.Pro33Leu) variant details
- p.Pro33Leu
- gnomAD 10-110644552-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.27
- MetaLR 0.46
- MetaSVM -0.49
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available