Q22K (p.Gln22Lys) variant of RAI1 (Retinoic acid-induced protein 1)
Q22K (p.Gln22Lys) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Q22K (p.Gln22Lys) variant details
- p.Gln22Lys
- rs1031886321
- ClinGen CA288366756
- ClinVar RCV002927730
- ClinVar RCV005724875
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 24.40
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- 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)