S25G (p.Ser25Gly) variant of RBM20 (RNA-binding protein 20)
S25G (p.Ser25Gly) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S25G (p.Ser25Gly) variant details
- p.Ser25Gly
- gnomAD 10-110644527-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.24
- MetaLR 0.48
- MetaSVM -0.54
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available