P34L (p.Pro34Leu) variant of AVPR2 (Vasopressin V2 receptor)
P34L (p.Pro34Leu) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Nephrogenic syndrome of inappropriate antidiuresis; Dia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- rs781991255
- ClinGen CA10554944
- ClinVar RCV002677867
- ClinVar RCV005050768
- Conflicting interpretations
- Inborn genetic diseases; Nephrogenic syndrome of inappropriate antidiuresis; Dia
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- CADD 3.45
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Nephrogenic syndrome of inappropriate a)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Hereditary Nephrogenic Diabetes Insipidus. (PMID 20301356)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)