G15V (p.Gly15Val) variant of RBM20 (RNA-binding protein 20)
G15V (p.Gly15Val) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G15V (p.Gly15Val) variant details
- p.Gly15Val
- gnomAD 10-110644498-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.42
- MetaLR 0.55
- MetaSVM -0.32
- CADD 25.70
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available