R20K (p.Arg20Lys) variant of FANCA (Fanconi anemia group A protein)
R20K (p.Arg20Lys) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R20K (p.Arg20Lys) variant details
- p.Arg20Lys
- rs376307136
- ClinGen CA8253263
- ClinVar RCV000306986
- ClinVar RCV003477894
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.06
- CADD 11.80
- PolyPhen-2 0.02
- SIFT 0.26
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- 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)