K77R (p.Lys77Arg) variant of GNAQ (P50148)
K77R (p.Lys77Arg) in GNAQ (P50148) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K77R (p.Lys77Arg) variant details
- p.Lys77Arg
- rs746699009
- ClinGen CA5094687
- ClinVar RCV002934701
- ExAC rs746699009
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.28
- MetaLR 0.53
- MetaSVM -0.23
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.31
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)