R38Q (p.Arg38Gln) variant of AVPR2 (Vasopressin V2 receptor)
R38Q (p.Arg38Gln) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R38Q (p.Arg38Gln) variant details
- p.Arg38Gln
- rs782052413
- ClinGen CA10554948
- NCI-TCGA Cosmic COSV6168
- ClinVar RCV002961467
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.078
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.98
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)