S22L (p.Ser22Leu) variant of RBM10 (RNA-binding protein 10)
S22L (p.Ser22Leu) in RBM10 (RNA-binding protein 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S22L (p.Ser22Leu) variant details
- p.Ser22Leu
- cosmic curated COSV10885
- ExAC rs782373421
- gnomAD rs782373421
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.06
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- RBM10 Zinc finger, RanBP2-type domain domainome 1.0: score -0.56