K31R (p.Lys31Arg) variant of FANCA (Fanconi anemia group A protein)
K31R (p.Lys31Arg) 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; Inborn genetic diseases. 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.
K31R (p.Lys31Arg) variant details
- p.Lys31Arg
- rs2041101472
- ClinGen CA397483738
- ClinVar RCV001338074
- TOPMed rs2041101472
- Uncertain significance
- Fanconi anemia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.04
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Uncertain significance (Fanconi anemia; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)