E4K (p.Glu4Lys) variant of RBM10 (RNA-binding protein 10)
E4K (p.Glu4Lys) in RBM10 (RNA-binding protein 10) 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, experimental measurements, and structural context.
E4K (p.Glu4Lys) variant details
- p.Glu4Lys
- cosmic curated COSV52102
- gnomAD rs1556762490
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.14
- CADD 28.20
- PolyPhen-2 0.68
- SIFT 0.05
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- RBM10 Zinc finger, RanBP2-type domain domainome 1.0: score -0.644