S32F (p.Ser32Phe) variant of RBM20 (RNA-binding protein 20)
S32F (p.Ser32Phe) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S32F (p.Ser32Phe) variant details
- p.Ser32Phe
- gnomAD 10-110644549-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.31
- MetaLR 0.46
- MetaSVM -0.51
- CADD 24.70
- PolyPhen-2 0.53
- SIFT 0.13
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available