K66R (p.Lys66Arg) variant of CLN3 (Battenin)
K66R (p.Lys66Arg) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Neuronal ceroid lipofuscinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and published literature.
K66R (p.Lys66Arg) variant details
- p.Lys66Arg
- rs769447444
- ClinGen CA7981031
- cosmic curated COSV10736
- ClinVar RCV002047051
- Uncertain significance
- Inborn genetic diseases; Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- CADD 18.50
- PolyPhen-2 0.08
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases; Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- 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)