Q77R (p.Gln77Arg) variant of SPINK5 (Q9NQ38)
Q77R (p.Gln77Arg) in SPINK5 (Q9NQ38) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Q77R (p.Gln77Arg) variant details
- p.Gln77Arg
- rs2531649900
- ClinGen CA361888837
- ClinVar RCV003212753
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.03
- MetaLR 0.10
- MetaSVM -1.06
- CADD 20.50
- PolyPhen-2 0.39
- SIFT 0.16
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)