K30R (p.Lys30Arg) variant of FANCD2 (Fanconi anemia group D2 protein)
K30R (p.Lys30Arg) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
K30R (p.Lys30Arg) variant details
- p.Lys30Arg
- rs1470379901
- ClinGen CA351717994
- ClinVar RCV003277888
- gnomAD rs1470379901
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- CADD 22.40
- PolyPhen-2 0.60
- SIFT 0.16
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)