P33S (p.Pro33Ser) variant of RBM20 (RNA-binding protein 20)
P33S (p.Pro33Ser) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P33S (p.Pro33Ser) variant details
- p.Pro33Ser
- gnomAD 10-110644551-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.20
- MetaLR 0.35
- MetaSVM -0.76
- CADD 15.70
- PolyPhen-2 0.02
- SIFT 0.23
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available