G37C (p.Gly37Cys) variant of RBM20 (RNA-binding protein 20)
G37C (p.Gly37Cys) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G37C (p.Gly37Cys) variant details
- p.Gly37Cys
- gnomAD 10-110644563-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.38
- MetaLR 0.61
- MetaSVM -0.27
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available