Q17K (p.Gln17Lys) variant of FANCC (Fanconi anemia group C protein)
Q17K (p.Gln17Lys) in FANCC (Fanconi anemia group C protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
Q17K (p.Gln17Lys) variant details
- p.Gln17Lys
- gnomAD rs1292311011
- Missense
- Variant Prioritization Score for Impact Estimate 0.0919
- REVEL 0.04
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.36
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available