V21E (p.Val21Glu) variant of FANCC (Fanconi anemia group C protein)
V21E (p.Val21Glu) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
V21E (p.Val21Glu) variant details
- p.Val21Glu
- ExAC rs746117016
- gnomAD rs746117016
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.10
- AlphaMissense 0.11
- MetaLR 0.04
- MetaSVM -1.00
- CADD 4.77
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available