V6G (p.Val6Gly) variant of FANCC (Fanconi anemia group C protein)
V6G (p.Val6Gly) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V6G (p.Val6Gly) variant details
- p.Val6Gly
- rs527289778
- ClinGen CA16618896
- ClinVar RCV000485074
- ClinVar RCV001834563
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- AlphaMissense 0.07
- MetaLR 0.05
- MetaSVM -0.93
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.35
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)