Q32K (p.Gln32Lys) variant of FANCC (Fanconi anemia group C protein)
Q32K (p.Gln32Lys) in FANCC (Fanconi anemia group C protein) 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 0.30 / 1. The record also includes structural context.
Q32K (p.Gln32Lys) variant details
- p.Gln32Lys
- rs1831176210
- ClinGen CA374340349
- ClinVar RCV003325713
- Ensembl rs1831176210
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- AlphaMissense 0.07
- MetaLR 0.05
- MetaSVM -1.00
- PolyPhen-2 0.01
- SIFT 1.00
- EVE 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available