R49G (p.Arg49Gly) variant of FANCA (Fanconi anemia group A protein)
R49G (p.Arg49Gly) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
R49G (p.Arg49Gly) variant details
- p.Arg49Gly
- rs929925295
- ClinGen CA286612195
- ClinVar RCV000689475
- ClinVar RCV003478407
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.02
- CADD 18.70
- PolyPhen-2 0.09
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)