K108R (p.Lys108Arg) variant of CNGA1 (P29973)
K108R (p.Lys108Arg) in CNGA1 (P29973) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
K108R (p.Lys108Arg) variant details
- p.Lys108Arg
- rs773033454
- ClinGen CA2911320
- ClinVar RCV002976715
- ClinVar RCV005804659
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.10
- CADD 22.40
- PolyPhen-2 0.97
- SIFT 0.50
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)