V6A (p.Val6Ala) variant of FANCC (Fanconi anemia group C protein)
V6A (p.Val6Ala) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
V6A (p.Val6Ala) variant details
- p.Val6Ala
- rs527289778
- ClinGen CA5137850
- ClinVar RCV000988228
- 1000Genomes rs527289778
- Likely benign
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0941
- REVEL 0.04
- AlphaMissense 0.07
- MetaLR 0.05
- MetaSVM -0.93
- CADD 0.03
- PolyPhen-2 0.00
- ClinVar: Likely benign (Fanconi anemia complementation group A)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)