V6G (p.Val6Gly) variant of FANCA (Fanconi anemia group A protein)
V6G (p.Val6Gly) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
V6G (p.Val6Gly) variant details
- p.Val6Gly
- rs1800282
- ClinGen CA397484605
- ClinVar RCV001935866
- 1000Genomes rs1800282
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.17
- CADD 8.25
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Fanconi anemia)
- EBI: Benign (in dbSNP:rs1800282)
- UniProt: Benign (in dbSNP:rs1800282)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)