Q24R (p.Gln24Arg) variant of FANCC (Fanconi anemia group C protein)
Q24R (p.Gln24Arg) in FANCC (Fanconi anemia group C protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Q24R (p.Gln24Arg) variant details
- p.Gln24Arg
- TOPMed rs1831177809
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.28
- CADD 24.90
- PolyPhen-2 0.88
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available