Y16C (p.Tyr16Cys) variant of RBM10 (RNA-binding protein 10)
Y16C (p.Tyr16Cys) in RBM10 (RNA-binding protein 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes experimental measurements and structural context.
Y16C (p.Tyr16Cys) variant details
- p.Tyr16Cys
- rs2147127817
- ClinGen CA412788073
- cosmic curated COSV61310
- ClinVar RCV001764111
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- AlphaMissense 0.96
- MetaLR 0.08
- MetaSVM -1.04
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.39
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- RBM10 Zinc finger, RanBP2-type domain domainome 1.0: score -0.464