G37V (p.Gly37Val) variant of RBM20 (RNA-binding protein 20)
G37V (p.Gly37Val) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G37V (p.Gly37Val) variant details
- p.Gly37Val
- gnomAD 10-110644564-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.41
- MetaLR 0.46
- MetaSVM -0.11
- CADD 26.20
- PolyPhen-2 0.96
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available