C24F (p.Cys24Phe) variant of RBM20 (RNA-binding protein 20)
C24F (p.Cys24Phe) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
C24F (p.Cys24Phe) variant details
- p.Cys24Phe
- gnomAD 10-110644525-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.22
- MetaLR 0.44
- MetaSVM -0.39
- CADD 25.60
- PolyPhen-2 0.63
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available