P27S (p.Pro27Ser) variant of RBM20 (RNA-binding protein 20)
P27S (p.Pro27Ser) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P27S (p.Pro27Ser) variant details
- p.Pro27Ser
- gnomAD rs1318275478
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.21
- MetaLR 0.45
- MetaSVM -0.57
- CADD 14.50
- PolyPhen-2 0.02
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available