D7A (p.Asp7Ala) variant of FANCC (Fanconi anemia group C protein)
D7A (p.Asp7Ala) 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.
D7A (p.Asp7Ala) variant details
- p.Asp7Ala
- cosmic curated COSV56664
- gnomAD rs1218495715
- Missense
- Variant Prioritization Score for Impact Estimate 0.0866
- REVEL 0.08
- CADD 3.64
- PolyPhen-2 0.14
- SIFT 0.66
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available