R16W (p.Arg16Trp) variant of ABCC8 (Q09428)
R16W (p.Arg16Trp) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
R16W (p.Arg16Trp) variant details
- p.Arg16Trp
- rs1591935006
- ClinGen CA379790172
- NCI-TCGA Cosmic COSV5684
- cosmic curated COSV56849
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- AlphaMissense 0.21
- MetaLR 0.47
- MetaSVM 0.06
- PolyPhen-2 0.01
- SIFT 0.00
- EVE 0.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available