V21F (p.Val21Phe) variant of ABCC8 (Q09428)
V21F (p.Val21Phe) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
V21F (p.Val21Phe) variant details
- p.Val21Phe
- rs1176097396
- ClinGen CA379790100
- ClinVar RCV003875905
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.79
- CADD 28.70
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in HHF1)
- UniProt: Likely pathogenic (in HHF1)
- Population evidence available
- Structural context available