P16Q (p.Pro16Gln) variant of RBM20 (RNA-binding protein 20)
P16Q (p.Pro16Gln) 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.
P16Q (p.Pro16Gln) variant details
- p.Pro16Gln
- gnomAD 10-110644501-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.26
- MetaLR 0.46
- MetaSVM -0.55
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available